389 results match your criteria Dystrophinopathies

WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase.

Neurol Genet 2021 Feb 29;7(1):e554. Epub 2021 Jan 29.

Kids Neuroscience Centre (L.B.W., S.J.B., A.B., F.J.E., H.J., S.A.S., G.L.O., E.C.O., N.F.C., K.J.J., S.T.C.), Kids Research Institute, The Children's Hospital at Westmead, New South Wales, Australia; Discipline of Child and Adolescent Health (L.B.W., S.J.B., A.B., F.J.E., S.A.S., G.L.O., E.C.O., N.F.C., K.J.J., S.T.C.), Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Analytic and Translational Genetics Unit (B.B.C., J.L.M., T.T., E.V., D.G.M., M.L.), Massachusetts General Hospital, Boston; Medical and Population Genetics (B.B.C., J.L.M., T.T., E.V., B.W., S.S., D.G.M., M.L.), and Center for Mendelian Genomics (B.B.C., J.L.M., E.V., B.W., S.S., D.G.M., M.L.), Broad Institute of MIT & Harvard, Cambridge, MA; Functional Neuromics (F.J.E., S.T.C.), Children's Medical Research Institute, Westmead, New South Wales, Australia; Murdoch Children's Research Institute (S.S.), Parkville, Victoria, Australia; Department of Diagnostic Genomics (M.R.D., F.F., R.G.), PathWest Laboratory Medicine WA, Nedlands, Australia; Department of Clinical Genetics (S.A.S., A.M., K.J.J.), Children's Hospital at Westmead, New South Wales, Australia; Department of Genetic Medicine (M.C.T.), Westmead Hospital, New South Wales, Australia; Discipline of Genomic Medicine (M.C.T., A.M.), Sydney Medical School, The University of Sydney, New South Wales, Australia; Centre for Clinical Genetics (D.R.M.), Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health (D.R.M., M.A.F.), UNSW Medicine, UNSW Sydney, Australia; Department of Neurology (M.A.F., H.S.), Sydney Children's Hospital, Randwick, New South Wales, Australia; Department of Clinical Genetics (A.M.), Nepean Hospital, Sydney, Australia; Genetic Health Service NZ (K.N.), Wellington, New Zealand; Neurology Laboratory (M.-X.W.), Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School (M.-X.W.), Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia; Anatomic Pathology (A.C., C.C., N.G., S.A.), The Children's Hospital at Westmead, New South Wales, Australia; Anatomic Pathologist (D.N.K.), Department of Pathology and Molecular Medicine, University of Otago, Wellington, New Zealand; and Harvard Medical School (D.G.M.), Boston, MA.

Objective: To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnosis, and to use remnant normal splicing in 3 families to define critical levels of wild-type dystrophin bridging clinical spectrums of Duchenne to myalgia.

Methods: Exome, genome, and/or muscle RNA sequencing was performed for 7 males with elevated creatine kinase. PCR of muscle-derived complementary DNA (cDNA) studied consequences for premessenger RNA (pre-mRNA) splicing. Read More

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February 2021

Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.

PLoS One 2021 3;16(5):e0250420. Epub 2021 May 3.

Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.

Introduction: Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease both at genetics and neuroimaging point of view. The current study aims to: 1) analyze the neuropsychological profile of a group of DMD and BMD boys without cognitive impairment with an assessment of their executive functions; 2) explore the structural connectivity in DMD, BMD, and age-matched controls focusing on cortico-subcortical tracts that connect frontal cortex, basal ganglia, and cerebellum via the thalamus; 3) explore possible correlations between altered structural connectivity and clinical neuropsychological measures.

Materials And Methods: This pilot study included 15 boys (5 DMD subjects, 5 BMD subjects, and 5 age-matched typically developing, TD). Read More

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Assessment of Weighted Gene Co-Expression Network Analysis to Explore Key Pathways and Novel Biomarkers in Muscular Dystrophy.

Pharmgenomics Pers Med 2021 13;14:431-444. Epub 2021 Apr 13.

Liaoning Academy of Analytic Science, Construction Engineering Center of Important Technology Innovation and Research and Development Base in Liaoning Province, Shenyang, People's Republic of China.

Purpose: This study aimed to explore the key molecular pathways involved in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and thereby identify hub genes to be potentially used as novel biomarkers using a bioinformatics approach.

Methods: Raw GSE109178 data were collected from the Gene Expression Omnibus (GEO) database. Weighted gene co-expression network analysis (WGCNA) was conducted on the top 50% of altered genes. Read More

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Read-through approach for stop mutations in Duchenne muscular dystrophy. An update.

Luisa Politano

Acta Myol 2021 Mar 31;40(1):43-50. Epub 2021 Mar 31.

Cardiomiology and Medical Genetics, "Luigi Vanvitelli" University, Naples, Italy.

Dystrophinopathies are allelic conditions caused by deletions, duplications and point-mutations in the gene, located on the X chromosome (Xp21.2). Mutations that prematurely interrupt the dystrophin protein synthesis lead to the most severe clinical form, Duchenne muscular Dystrophy, characterized by early involvement of muscle strength. Read More

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Care for Patients With Neuromuscular Disorders in the COVID-19 Pandemic Era.

Front Neurol 2021 24;12:607790. Epub 2021 Mar 24.

Department of Pediatrics, Division of Pediatric Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

The coronavirus disease 2019 (COVID-19) pandemic has prompted a rapid and unprecedented reorganization of medical institutions, affecting clinical care for patients with chronic neurological diseases. Although there is no evidence that patients with neuromuscular disorders (NMD) confer a higher infection risk of COVID-19, NMD and its associated therapies may affect the patient's ability to cope with infection or its systemic effects. Moreover, there is a concern that patients with chronic NMD may be at increased risk of manifesting severe symptoms of COVID-19. Read More

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Vitamin D Level Stability in Dystrophinopathy Patients on Vitamin D Supplementation.

J Neuromuscul Dis 2021 Apr 1. Epub 2021 Apr 1.

Department of Internal Medicine, University of Iowa, Hawkins Drive, Iowa City IA, USA.

Background: Expert guidelines recommend annual monitoring of 25-hydroxyvitamin D (25-OHD) and maintaining 25-OHD ≥30 ng/ml in patients with dystrophinopathies.

Objective: We hypothesized that 25-OHD remains stable and requires less frequent monitoring in patients taking stable maintenance doses of vitamin D.

Methods: We performed a retrospective cohort study, using the electronic health record to identify 26 patients with dystrophinopathies with a baseline 25-OHD ≥30 ng/mL and at least one additional 25-OHD measurement. Read More

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Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients.

EMBO Mol Med 2021 Apr 10;13(4):e13328. Epub 2021 Mar 10.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

DMD is a rare disorder characterized by progressive muscle degeneration and premature death. Therapy development is delayed by difficulties to monitor efficacy non-invasively in clinical trials. In this study, we used RNA-sequencing to describe the pathophysiological changes in skeletal muscle of 3 dystrophic mouse models. Read More

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Molecular Diagnosis in 100% of Dystrophinopathies: Are We There Yet?

Elena Pegoraro

Neurol Genet 2021 Feb 29;7(1):e529. Epub 2021 Jan 29.

ERN Neuromuscular Unit, Department of Neurosciences, DNS, University of Padova, Padova, Italy.

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February 2021

Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.

Muscle Nerve 2021 Mar 8. Epub 2021 Mar 8.

Edgewise Therapeutics, BioFrontiers Institute, University of Colorado, Boulder, CO, USA.

Introduction/aims: One of the hallmarks of injured skeletal muscle is the appearance of elevated skeletal muscle proteins in circulation. Human skeletal muscle generally consists of a mosaic of slow (type I) and fast (type IIa, IIx/d) fibers, defined by their myosin isoform expression. Recently, measurement of circulating fiber-type specific isoforms of troponin I has been used as a biomarker to suggest that muscle injury in healthy volunteers (HV) results in the appearance of muscle proteins from fast but not slow fibers. Read More

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Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency.

Vet Med Sci 2021 Jan 27. Epub 2021 Jan 27.

Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, MO, USA.

The University of Missouri (MU) has established a colony of dystrophin-deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to facilitate discovery of an effective therapeutic strategy. Herein we report the phenotype and genotype of a normal-appearing 10-month-old colony female that died suddenly. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the oesophagus. Read More

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January 2021

A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis.

J Pers Med 2021 Jan 14;11(1). Epub 2021 Jan 14.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.

Dystrophinopathies are caused by mutations in the gene. Out-of-frame deletions represent most mutational events in severe Duchenne muscular dystrophy (DMD), while in-frame deletions typically lead to milder Becker muscular dystrophy (BMD). Antisense oligonucleotide-mediated exon skipping converts an out-of-frame transcript to an in-frame one, inducing a truncated but partially functional dystrophin protein. Read More

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January 2021

A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images.

BMC Neurol 2021 Jan 11;21(1):13. Epub 2021 Jan 11.

Department of Neurology, Peking University First Hospital, Beijing, China.

Background: Dystrophinopathies are the most common type of inherited muscular diseases. Muscle biopsy and genetic tests are effective to diagnose the disease but cost much more than primary hospitals can reach. The more available muscle MRI is promising but its diagnostic results highly depends on doctors' experiences. Read More

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January 2021

Trunk Control and Upper Limb Function of Walking and Non-walking Duchenne Muscular Dystrophy Individuals.

Dev Neurorehabil 2021 Jan 7:1-7. Epub 2021 Jan 7.

Department Human Movement Sciences, Federal University of São Paulo, Santos, Brazil.

: To verify and compare trunk control and upper limb functionality (ULs) in walking and non-walking DMD individuals, with that of individuals without dystrophinopathies.: Cross-sectional study, with children without dystrophinopathy (healthy control group) and in walking and non-walking DMD children evaluated by the following scales: Segmental Control Evaluation Trunk (SATCo); Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT).: There was a difference between the groups in trunk control and ULs function by the PUL scale, but there was no difference between walking and the reference group in all JTT subtests; The JTT writing subtest was not different between groups. Read More

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January 2021

Role of the Renin-Angiotensin-Aldosterone System in Dystrophin-Deficient Cardiomyopathy.

Int J Mol Sci 2020 Dec 31;22(1). Epub 2020 Dec 31.

Biomedical Research and Innovation Institute of Cadiz (INiBICA), Research Unit, Puerta del Mar University Hospital, University of Cadiz, 11009 Cadiz, Spain.

Dystrophin-deficient cardiomyopathy (DDC) is currently the leading cause of death in patients with dystrophinopathies. Targeting myocardial fibrosis (MF) has become a major therapeutic goal in order to prevent the occurrence of DDC. We aimed to review and summarize the current evidence about the role of the renin-angiotensin-aldosterone system (RAAS) in the development and perpetuation of MF in DCC. Read More

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December 2020

A child with duchenne muscular dystrophy: A case report of a rare diagnosis among Africans.

Clin Case Rep 2020 Dec 18;8(12):2654-2660. Epub 2020 Aug 18.

Department of Internal Medicine Mbeya Zonal Referral Hospital Mbeya Tanzania.

In Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. Therefore, even though the data on prevalence is limited, we need to have a high degree of suspicion in patients presenting with suggestive clinical features. Read More

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December 2020

Validation of the EULAR/ACR 2017 idiopathic inflammatory myopathy classification criteria in juvenile dermatomyositis patients.

Clin Exp Rheumatol 2020 Dec 4. Epub 2020 Dec 4.

Division of Paediatric Rheumatology, Department of Paediatrics, Hacettepe University, Ankara, Turkey.

Objectives: In 2017, a new set of criteria was proposed by EULAR/ACR to classify idiopathic inflammatory myopathies. Our aim was to validate the EULAR/ACR 2017 classification criteria in juvenile dermatomyositis (JDM) patients.

Methods: This study was carried out at Hacettepe University Children's Hospital Department of Paediatrics, Divisions of Rheumatology, Neurology and Paediatric Pathology Unit. Read More

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December 2020

From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies.

Int J Mol Sci 2020 Nov 25;21(23). Epub 2020 Nov 25.

Department of Physiology, Faculty of Medicine, University of Debrecen, H-4002 Debrecen, Hungary.

Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characterized by a progressive deterioration of muscle mass and strength. The causes, symptoms, age of onset, severity, and progression vary depending on the exact time point of diagnosis and the entity. Congenital myopathies are rare muscle diseases mostly present at birth that result from genetic defects. Read More

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November 2020

A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.

Front Neurol 2020 30;11:572006. Epub 2020 Sep 30.

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in . A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrophinopathy database using the National Rare Diseases Registry System of China. Read More

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September 2020

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the Gene.

Genes (Basel) 2020 Oct 10;11(10). Epub 2020 Oct 10.

Department of Neurology, Peking University First Hospital, Beijing 100034, China.

Pseudoexon (PE) inclusion has been implicated in various dystrophinopathies; however, its splicing characteristics have not been fully investigated. This study aims to analyze the splicing characteristics of dystrophin PEs and compare them with those of dystrophin canonical exons (CEs). Forty-two reported dystrophin PEs were divided into a splice site (ss) group and a splicing regulatory element (SRE) group. Read More

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October 2020

Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.

J Med Genet 2020 Sep 25. Epub 2020 Sep 25.

Department of Neurology, Peking University First Hospital, Beijing, China

Objective: To investigate the diagnostic value of implementing a stepwise genetic testing strategy (SGTS) in genetically unsolved cases with dystrophinopathies.

Methods: After routine genetic testing in 872 male patients with highly suspected dystrophinopathies, we identified 715 patients with a pathogenic variant. Of the 157 patients who had no pathogenic variants and underwent a muscle biopsy, 142 patients were confirmed to have other myopathies, and 15 suspected dystrophinopathies remained genetically undiagnosed. Read More

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September 2020

Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.

Ann Clin Transl Neurol 2020 10 20;7(10):2041-2046. Epub 2020 Sep 20.

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.

The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without a genetic diagnosis after routine genetic testing, dystrophin protein and mRNA analysis, and short- and long-read whole DMD gene sequencing. Read More

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October 2020

12-Month changes of muscle strength, body composition and physical activity in adults with dystrophinopathies.

Disabil Rehabil 2020 Aug 27:1-8. Epub 2020 Aug 27.

Faculty of Science and Engineering, School of Healthcare Science, Research Centre for Musculoskeletal Science & Sports Medicine, Manchester Metropolitan University, Manchester, United Kingdom.

Purpose: Muscular dystrophy (MD) is an umbrella term for muscle wasting conditions, for which longitudinal changes in function and body composition are well established in children with Duchenne (DMD), however, changes in adults with DMD and Beckers (BMD), respectively, remain poorly reported. This study aims to assess 12-month changes in lower-limb strength, muscle size, body composition and physical activity in adults with Muscular Dystrophy (MD).

Methods: Adult males with Duchenne MD (DMD;  = 15) and Beckers MD (BMD;  = 12) were assessed at baseline and 12-months for body composition (Body fat and lean body mass (LBM)), Isometric maximal voluntary contraction (Knee-Extension (KEMVC) and Plantar-Flexion (PFMVC)) and physical activity (tri-axial accelerometry). Read More

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Georgian Med News 2020 Jun(303):79-85

Shupyk National Medical Academy of Postgraduate Education, Ukraine.

The purpose of the study is to examine in depth and analyze the clinical and some paraclinical characteristics for a family history of Duchenne muscular dystrophy. We analyzed the follow up clinical and laboratory data of Duchenne muscular dystrophy in two brothers-german, aged 16 and 14, respectively. The patients underwent a standardized examination, involving studying the medical case history, general clinical data, determining Sheldon's somatotype and the constitutional type, the detailed neurological status examination, testing a personality type, laboratory and instrumental examinations. Read More

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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.

Skelet Muscle 2020 08 7;10(1):23. Epub 2020 Aug 7.

U955 - IMRB, Team 10 - Biology of the neuromuscular system, Inserm, UPEC, EFS, Ecole nationale vétérinaire d'Alfort, 94700, Maisons-Alfort, France.

Background: Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but the Golden Retriever muscular dystrophy (GRMD) model remains the most used in preclinical studies. Here, we report a new spontaneous dystrophinopathy in a Labrador Retriever strain, named Labrador Retriever muscular dystrophy (LRMD). Read More

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Rare intronic mutation between Exon 62 and 63 (c.9225-285A>G) of the dystrophin gene associated with atypical BMD phenotype.

Neuromuscul Disord 2020 08 10;30(8):680-684. Epub 2020 Jun 10.

Department of Pediatrics, Division of Neuropediatrics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen (FAU), Loschgestr. 15, 91054 Erlangen, Germany. Electronic address:

Dystrophinopathies are predominantly caused by deletions, duplications and point mutations in the coding regions of the dystrophin gene with less than 1% of all pathogenic mutations identified within intronic sequences. We describe a 17-year-old male with a Becker muscular dystrophy diagnosis and mental disability due to an intron mutation that led to aberrant splicing and formation of an additional exon. Histopathological analysis of muscle tissue revealed signs of muscular dystrophy and reduced signal for dystrophin, alpha-sarcoglycan, and alpha-dystroglycan. Read More

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Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.

Genes (Basel) 2020 07 8;11(7). Epub 2020 Jul 8.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G2H7, Canada.

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with progressive body-wide muscle deterioration, culminating in death as a result of cardiac or respiratory failure. A milder form of DMD exists, called Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin gene mutations. Read More

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Effect of exercise on telomere length and telomere proteins expression in mdx mice.

Mol Cell Biochem 2020 Jul 23;470(1-2):189-197. Epub 2020 May 23.

Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina University Hospital, Via Consolare Valeria 1, 98125, Messina, Italy.

In Duchenne muscular dystrophy (DMD), telomere shortening has been postulated to contribute to the failure of regenerative activity promoting the premature senescence of satellite cells. The aim of the present study was to investigate the telomere length and the expression of telomeric repeat-binding factor-1 (TRF1), poly (ADP-ribose) polymerase-1 (PARP1) and mouse telomerase reverse transcriptase (MTERT) in gastrocnemius, tibialis anterior and diaphragm muscles of the murine model of DMD, the mdx mouse and whether a chronic protocol of forced exercise impacts on them. Our results confirmed a telomere shortening in mdx muscles, more evident in the diaphragm, in which exercise induced a greater shortening than in wild-type mice. Read More

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EMQN best practice guidelines for genetic testing in dystrophinopathies.

Eur J Hum Genet 2020 09 18;28(9):1141-1159. Epub 2020 May 18.

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been produced to update previous guidelines published in 2010. Read More

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September 2020

Rehabilitation Following Fracture in Dystrophinopathy, A Case Series.

J Neuromuscul Dis 2020 ;7(3):343-354

Department of Orthopedics, Children's Hospital of Philadelphia, Philadelphia PA.

Background: Boys with dystrophinopathies (DMD) are at increased risk of low bone mineral density and fracture. Femoral fracture is the most common extremity fracture and is accompanied by significant risk of functional loss. Care considerations for DMD have stressed that aggressive management may be needed to maintain ambulation and that surgical fixation allows early mobilization. Read More

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Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.

Indian J Pediatr 2020 Jul 2;87(7):495-504. Epub 2020 May 2.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, 110060, India.

Background: Dystrophinopathies are common X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (DMD). Analysis of the mutational spectrum in the Indian patients would be useful for confirming the diagnosis, provide genetic counseling, offer reproductive options, and importantly to determine the eligibility for the mutation-specific therapies currently approved/or undergoing trials, such as skipping of specific exons or read-through of stop codon.

Methods: In 1660 patients diagnosed as Duchenne muscular dystrophy (DMD) /Becker muscular dystrophy (BMD) deletion- duplication analysis of all 79 exons was carried out using Multiplex ligation-dependent probe amplification (MLPA) technology. Read More

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