Publications by authors named "Angela Abicht"

72Publications

Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?

Clin Neurol Neurosurg 2020 Oct 3;197:106122. Epub 2020 Aug 3.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2020.106122DOI Listing
October 2020

Differential diagnosis of vacuolar myopathies in the NGS era.

Brain Pathol 2020 Sep 15;30(5):877-896. Epub 2020 Jun 15.

Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bpa.12864DOI Listing
September 2020

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Gene 2020 Jul 25;749:144709. Epub 2020 Apr 25.

Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2020.144709DOI Listing
July 2020

Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.

J Peripher Nerv Syst 2020 06 24;25(2):112-116. Epub 2020 Feb 24.

Department of Neurology, University Hospital Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jns.12367DOI Listing
June 2020

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Hum Mutat 2020 May 18;41(5):1025-1032. Epub 2020 Feb 18.

Department of Genomics, Medical Genetics Center Munich, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187207PMC
May 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

J Clin Neurosci 2020 Feb 17;72:31-38. Epub 2020 Jan 17.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig-Maximilian-University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, Germany; Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jocn.2020.01.041DOI Listing
February 2020

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Clin EEG Neurosci 2020 Jan 25;51(1):61-69. Epub 2019 Sep 25.

Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1550059419876518DOI Listing
January 2020

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.

Front Neurosci 2019 3;13:918. Epub 2019 Sep 3.

Department of Neurology, Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnins.2019.00918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6733892PMC
September 2019

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?

Neuropediatrics 2020 02 21;51(1):49-52. Epub 2019 Sep 21.

Department of Neuropediatrics and Developmental Pediatrics, University Children's Hospital Basel, Basel, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1694976DOI Listing
February 2020

VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern.

Neuropediatrics 2019 12 1;50(6):404-405. Epub 2019 Jul 1.

Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1688953DOI Listing
December 2019

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

Neuromuscul Disord 2019 05 20;29(5):392-397. Epub 2019 Feb 20.

Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.02.007DOI Listing
May 2019

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 May 14;266(5):1107-1112. Epub 2019 Feb 14.

Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Marchioninistrasse 17, 81377, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-019-09239-7DOI Listing
May 2019

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Mol Cell Probes 2019 04 22;44:14-20. Epub 2019 Jan 22.

Medical Genetics Center, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-University, Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mcp.2019.01.003DOI Listing
April 2019

Characteristic clinical and ultrastructural findings in nesprinopathies.

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.12.011DOI Listing
March 2019

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.

Orphanet J Rare Dis 2018 11 26;13(1):211. Epub 2018 Nov 26.

Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0955-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260762PMC
November 2018

The Curse of Apneic Spells.

Semin Pediatr Neurol 2018 07 13;26:56-58. Epub 2017 Apr 13.

(⁎)Department of Neuropathology, Charité Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.spen.2017.03.006DOI Listing
July 2018

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Neuromuscul Disord 2018 06 13;28(6):532-537. Epub 2018 Apr 13.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2018.04.006DOI Listing
June 2018

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

J Neurol 2018 Jan 30;265(1):194-203. Epub 2017 Nov 30.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-017-8689-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760613PMC
January 2018

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

Neuromuscul Disord 2017 12 23;27(12):e1. Epub 2017 Oct 23.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.10.001DOI Listing
December 2017

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Neuromuscul Disord 2017 Sep 1;27(9):856-860. Epub 2017 Jun 1.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.05.017DOI Listing
September 2017

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

Neuropediatrics 2017 08 15;48(4):294-308. Epub 2017 May 15.

The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1602832DOI Listing
August 2017

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Neuromuscul Disord 2017 May 14;27(5):473-476. Epub 2017 Feb 14.

Department of Neurology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.02.005DOI Listing
May 2017

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Neuropediatrics 2017 Apr 26;48(2):111-114. Epub 2016 Dec 26.

Department of Pediatrics, RWTH University Hospital Aachen, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0036-1597611DOI Listing
April 2017

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

Brain 2016 08 3;139(Pt 8):2143-53. Epub 2016 Jun 3.

1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958899PMC
August 2016

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

Mitochondrial dysfunction in liver failure requiring transplantation.

J Inherit Metab Dis 2016 05 6;39(3):427-436. Epub 2016 Apr 6.

Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre and Wellcome Trust Centre for Mitochondrial Research, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9927-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851707PMC
May 2016

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Neuromolecular Med 2016 Mar 16;18(1):81-90. Epub 2015 Nov 16.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12017-015-8379-1DOI Listing
March 2016

Thomsen myotonia--A 4-generation family with a new mutation and a mild phenotype.

Muscle Nerve 2016 Apr 29;53(4):653-4. Epub 2015 Dec 29.

Department of Neurology Klinikum Kassel, Kassel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.24971DOI Listing
April 2016

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

J Neuromuscul Dis 2015 Jun;2(2):181-184

Center for Hereditary Muscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-150069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240542PMC
June 2015

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Hum Mol Genet 2015 Jun 12;24(12):3418-26. Epub 2015 Mar 12.

Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336 Munich, Germany,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv090DOI Listing
June 2015

Novel CACNA1A mutation(s) associated with slow saccade velocities.

J Neurol 2013 Dec 18;260(12):3010-4. Epub 2013 Sep 18.

Perception and Eye Movement Laboratory, Departments of Clinical Research and Neurology, Inselspital, Bern University Hospital, and University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00415-013-7099
Web Search
http://link.springer.com/10.1007/s00415-013-7099-4
Publisher Site
http://dx.doi.org/10.1007/s00415-013-7099-4DOI Listing
December 2013

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

Muscle Nerve 2014 Mar 31;49(3):446-50. Epub 2014 Jan 31.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23979DOI Listing
March 2014

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.

Neuromuscul Disord 2013 Jul 18;23(7):571-4. Epub 2013 May 18.

Department of Neurology and Biomedicine, University Hospital Basel, CH, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2013.04.001DOI Listing
July 2013

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation.

BMJ Case Rep 2012 Dec 6;2012. Epub 2012 Dec 6.

Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St.Gallen, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2012-006980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544064PMC
December 2012

Congenital myasthenic syndromes: current diagnostic and therapeutic approaches.

Neuropediatrics 2012 Aug 21;43(4):184-93. Epub 2012 Aug 21.

Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1323850
Publisher Site
http://dx.doi.org/10.1055/s-0032-1323850DOI Listing
August 2012

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

Neuromuscul Disord 2013 Jan 9;23(1):36-42. Epub 2012 Aug 9.

Department of Neurology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2012.06.355DOI Listing
January 2013

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Eur J Pediatr 2012 May 25;171(5):859-62. Epub 2012 Jan 25.

Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestrasse 15, 91054, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-011-1662-8DOI Listing
May 2012

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

J Neurol 2010 Sep 20;257(9):1517-23. Epub 2010 Apr 20.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-010-5565-9DOI Listing
September 2010

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

J Neurol 2009 May 1;256(5):810-5. Epub 2009 Mar 1.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, Munich 80336, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-009-5023-8DOI Listing
May 2009

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Hum Mol Genet 2009 May 16;18(9):1590-9. Epub 2009 Feb 16.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp074DOI Listing
May 2009

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Expert Rev Mol Med 2007 Aug 9;9(22):1-20. Epub 2007 Aug 9.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1462399407000427DOI Listing
August 2007

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Neuromuscul Disord 2004 Nov;14(11):744-9

Department of Neurology and Gene Center, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2004.06.010DOI Listing
November 2004

Mutation history of the roma/gypsies.

Am J Hum Genet 2004 Oct 20;75(4):596-609. Epub 2004 Aug 20.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/424759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182047PMC
October 2004

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Neuromuscul Disord 2003 Mar;13(3):245-51

Department of Neurology, and Genzentrum, Ludwig-Maximilians-Universität München, Feodor-Lynen-Strasse 25, 81377 Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0960-8966(02)00273-0DOI Listing
March 2003