Publications by authors named "Anders Oldfors"

100Publications

Commentary from the Editor.

Authors:
Anders Oldfors

Neuromuscul Disord 2021 Jan;31(1):1-4

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January 2021

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.

PLoS Genet 2020 12 14;16(12):e1009242. Epub 2020 Dec 14.

Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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December 2020

Authors:
Anders Oldfors

Neuromuscul Disord 2020 10 23;30(10):795. Epub 2020 Sep 23.

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October 2020

Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Acta Neurol Scand 2020 Aug 31. Epub 2020 Aug 31.

Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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August 2020

COX deficiency and leukoencephalopathy due to a novel homozygous mutation.

Neurol Genet 2020 Aug 16;6(4):e464. Epub 2020 Jun 16.

Department of Pathology and Genetics (C.H.-O., C.T., A.O.) and Department of Pediatrics (N.D.), Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg; and Department of Neurology (C.L.), Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden.

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August 2020

Deep sequencing of mitochondrial DNA and characterization of a novel mutation in a patient with arPEO.

Neurol Genet 2020 Feb 10;6(1):e391. Epub 2020 Jan 10.

Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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February 2020

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Neuromuscul Disord 2019 12 23;29(12):951-960. Epub 2019 Oct 23.

Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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December 2019

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

Acta Neuropathol Commun 2019 11 27;7(1):188. Epub 2019 Nov 27.

Center for Neurodegenerative Science, Van Andel Institute, 333 Bostwick Ave. N.E, Grand Rapids, MI, 49503-2518, USA.

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November 2019

The Atrioventricular Junction: A Potential Niche Region for Progenitor Cells in the Adult Human Heart.

Stem Cells Dev 2019 08 27;28(16):1078-1088. Epub 2019 Jun 27.

1Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg Sahlgrenska Academy, Gothenburg, Sweden.

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August 2019

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

Mitochondrion 2019 07 4;47:76-81. Epub 2019 May 4.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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July 2019

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Neuromuscul Disord 2019 02 20;29(2):108-113. Epub 2018 Dec 20.

Department of Pediatrics, Sahlgrenska Academy, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.

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February 2019

Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis.

Acta Neurol Scand 2019 Feb 8;139(2):177-182. Epub 2018 Nov 8.

Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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February 2019

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

Eur J Hum Genet 2019 02 12;27(2):331-335. Epub 2018 Oct 12.

Department of Pathology and Genetics and Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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February 2019

Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner.

PLoS One 2018 23;13(8):e0202693. Epub 2018 Aug 23.

Department of Clinical Chemistry, Sahlgrenska University Hospital and Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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February 2019

Parvovirus B19 in Endomyocardial Biopsy of Patients With Idiopathic Dilated Cardiomyopathy: Foe or Bystander?

J Card Fail 2019 01 10;25(1):60-63. Epub 2018 Aug 10.

Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden; Wallenberg Laboratory, Sahlgrenska Academy, Gothenburg, Sweden.

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January 2019

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

Neurol Genet 2018 Aug 23;4(4):e254. Epub 2018 Jul 23.

Department of Pathology and Genetics (C.H.-O., A.O.), Sahlgrenska Academy, University of Gothenburg, and Department of Neurology (C.L.), Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden.

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August 2018

Tubular aggregates in congenital myasthenic syndrome.

Neuromuscul Disord 2018 02 24;28(2):174-175. Epub 2017 Nov 24.

Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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February 2018

Is Glycogenin Essential for Glycogen Synthesis?

Authors:
Anders Oldfors

Cell Metab 2017 Jul;26(1):12-14

Department of Pathology and Genetics, University of Gothenburg, Sahlgrenska Hospital, 413 45 Gothenburg, Sweden. Electronic address:

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July 2017

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.

Neuromuscul Disord 2017 Aug 8;27(8):771-776. Epub 2017 May 8.

Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

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August 2017

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

Neuromuscul Disord 2017 Sep 10;27(9):843-847. Epub 2017 May 10.

Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

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September 2017

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

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October 2016

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

J Neurol 2016 Oct 20;263(10):2133-5. Epub 2016 Aug 20.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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October 2016

Histopathological changes in skeletal muscle associated with chronic ischaemia.

APMIS 2016 Nov 19;124(11):935-941. Epub 2016 Aug 19.

Department of Orthopaedics, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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November 2016

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.

Eur J Hum Genet 2016 12 3;24(12):1771-1777. Epub 2016 Aug 3.

Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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December 2016

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

J Neurol 2016 Jul 13;263(7):1427-33. Epub 2016 May 13.

Department of Pathology and Genetics, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, 413 45, Gothenburg, Sweden.

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July 2016

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Am J Med Genet A 2016 May 11;170A(5):1155-64. Epub 2016 Feb 11.

Department of Pathology, University of Gothenburg, Gothenburg, Sweden.

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May 2016

Polyglucosan storage myopathies.

Mol Aspects Med 2015 Dec 13;46:85-100. Epub 2015 Aug 13.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. Electronic address:

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December 2015

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

Neuromuscul Disord 2015 Oct 15;25(10):780-5. Epub 2015 Jul 15.

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai, China. Electronic address:

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October 2015

Early onset cardiomyopathy in females with Danon disease.

Neuromuscul Disord 2015 Jun 16;25(6):493-501. Epub 2015 Mar 16.

Department of Pathology, University of Gothenburg, Gothenburg, Sweden.

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June 2015

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

Hum Mol Genet 2015 Jul 23;24(13):3638-50. Epub 2015 Mar 23.

Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg SE-413 45, Sweden, Department of Clinical and Medical Genetics, University of Gothenburg, Gothenburg SE-405 30, Sweden and Systems Biology Research Centre, School of Biomedicine, University of Skövde, Skövde SE-541 28, Sweden

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July 2015

Mitochondrial pathology in inclusion body myositis.

Neuromuscul Disord 2015 Apr 6;25(4):281-8. Epub 2015 Jan 6.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. Electronic address:

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April 2015

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.

Neuromuscul Disord 2015 Apr 13;25(4):345-8. Epub 2015 Jan 13.

Department of Pathology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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April 2015

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Mitochondrion 2015 Mar 20;21:33-40. Epub 2015 Jan 20.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address:

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March 2015

Glycogen pathways in disease: new developments in a classical field of medical genetics.

J Inherit Metab Dis 2015 May 7;38(3):483-7. Epub 2014 Nov 7.

Department of Otolaryngology, Göttingen University Medical School, Goettingen, Germany,

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May 2015

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Ann Neurol 2014 Dec 31;76(6):891-8. Epub 2014 Oct 31.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden; Myology Institute, Neuromuscular Morphology Unit, Pierre and Marie Curie University, Pitié-Salpêtrière University Hospital Group, Sorbonne Universities, Paris, France.

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December 2014

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

Neuromuscul Disord 2014 May 15;24(5):373-9. Epub 2014 Feb 15.

Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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May 2014

Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon? Reply.

Eur Heart J Cardiovasc Imaging 2014 Jan 8;15(1):110-1. Epub 2013 Oct 8.

Department of Molecular and Clinical Medicine/C, Sahlgrenska Academy, University of Gothenburg, Bruna stråket 16, SE 413 45 Gothenburg, Sweden.

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January 2014

LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.

Biochim Biophys Acta 2014 Feb 14;1844(2):398-405. Epub 2013 Nov 14.

Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. Electronic address:

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February 2014

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Brain 2014 Apr 14;137(Pt 4):e270. Epub 2013 Nov 14.

1 Department of Pathology, University of Gothenburg, Gothenburg, Sweden.

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April 2014

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

Eur J Hum Genet 2014 May 2;22(5):707-10. Epub 2013 Oct 2.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.

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May 2014

New insights in the field of muscle glycogenoses.

Curr Opin Neurol 2013 Oct;26(5):544-53

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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October 2013

Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy.

Eur Heart J Cardiovasc Imaging 2014 Feb 5;15(2):152-7. Epub 2013 Jul 5.

Department of Molecular and Clinical Medicine, Sahlgrenska Academy at University of Gothenburg, Bruna stråket 16, SE 413 45 Gothenburg, Sweden.

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February 2014

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

Hum Mol Genet 2013 Jun 27;22(12):2411-22. Epub 2013 Feb 27.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gula Stråket 8, Gothenburg SE-413 45, Sweden.

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June 2013

Myosinopathies: pathology and mechanisms.

Acta Neuropathol 2013 Jan 5;125(1):3-18. Epub 2012 Aug 5.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.

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January 2013

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Eur J Hum Genet 2013 May 11;21(5):571-3. Epub 2012 Jul 11.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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May 2013

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Brain 2012 Jun 9;135(Pt 6):1682-94. Epub 2012 May 9.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden.

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June 2012

Distal arthrogryposis: clinical and genetic findings.

Acta Paediatr 2012 Aug 24;101(8):877-87. Epub 2012 May 24.

Department of Women's and Children's Health, Uppsala University Children's Hospital, Uppsala, Sweden.

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August 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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June 2012

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Eur J Hum Genet 2012 Sep 7;20(9):984-5. Epub 2012 Mar 7.

Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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September 2012

Phenotypic and genotypic variability in Alpers syndrome.

Eur J Paediatr Neurol 2012 Jul 10;16(4):379-89. Epub 2012 Jan 10.

Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, S-416 85 Gothenburg, Sweden.

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July 2012

Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.

Biochim Biophys Acta 2012 Apr 9;1822(4):493-9. Epub 2011 Dec 9.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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April 2012

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Neuromuscul Disord 2012 Mar 18;22(3):244-51. Epub 2011 Nov 18.

Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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March 2012

Neonatal muscular manifestations in mitochondrial disorders.

Semin Fetal Neonatal Med 2011 Aug 18;16(4):229-35. Epub 2011 May 18.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.

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August 2011

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

Neuromuscul Disord 2011 Feb 31;21(2):115-20. Epub 2010 Dec 31.

Department of Clinical Chemistry, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE-41345 Gothenburg, Sweden.

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February 2011

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Brain 2010 May;133(Pt 5):1451-9

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.

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May 2010

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

N Engl J Med 2010 Apr;362(13):1203-10

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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April 2010

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Brain 2009 Aug 30;132(Pt 8):2170-9. Epub 2009 Jun 30.

Department of Clinical Chemistry, Sahlgrenska University Hospital, SE-41345 Göteborg, Sweden.

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August 2009

TPM3 mutation in one of the original cases of cap disease.

Neurology 2009 Jun;72(22):1961-3

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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June 2009

Thick filament diseases.

Adv Exp Med Biol 2008 ;642:78-91

Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.

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February 2009

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Neuromuscul Disord 2009 Feb 12;19(2):147-50. Epub 2009 Jan 12.

Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Stråket 16, SE-413 45 Göteborg, Sweden.

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February 2009

A patient with two mitochondrial DNA mutations causing PEO and LHON.

Eur J Med Genet 2009 Jan-Feb;52(1):47-8. Epub 2008 Nov 5.

Department of Neuroscience, University Hospital, Uppsala, Sweden.

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April 2009

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.

J Physiol 2008 Jun 17;586(12):2993-3004. Epub 2008 Apr 17.

Department of Neuroscience, Clinical Neurophysiology, University Hospital, Entrance 85, 3rd floor, SE-751 85 Uppsala, Sweden.

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June 2008

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Arch Neurol 2007 Sep;64(9):1334-8

Department of Pathology, Sahlgrenska University Hospital, S-413 45 Göteborg, Sweden.

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September 2007