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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations
Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.ORCID iD: 0000-0001-8854-5213
Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
Department of Neurology, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Hospital, Gothenburg, Sweden.
Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
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2014 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 22, no 6, 801-808 p.Article in journal (Refereed) Published
Abstract [en]

Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological characteristics of recessive myosin IIa myopathy associated with MYH2 missense mutations. Seven patients of five different families with a myopathy characterized by ophthalmoplegia and mild-to-moderate muscle weakness were investigated. Muscle biopsy was performed to study morphological changes and MyHC isoform expression. Five of the patients were homozygous for MYH2 missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. Muscle biopsy demonstrated small or absent type 2A muscle fibers and reduced or absent expression of the corresponding MyHC IIa transcript and protein. We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations.

Place, publisher, year, edition, pages
Nature Publishing Group, 2014. Vol. 22, no 6, 801-808 p.
Keyword [en]
Myosin heavy chain, MYH2, ophthalmoplegia, myosin myopathy
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11950DOI: 10.1038/ejhg.2013.250ISI: 000336496800013PubMedID: 24193343Scopus ID: 2-s2.0-84901056079OAI: oai:DiVA.org:his-11950DiVA: diva2:906927
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-03-03Bibliographically approved

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CiteExportLink to record
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