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Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)

Journal article
Authors Homa Tajsharghi
Niklas Darin
Elham Rekabdar
Mårten Kyllerman
Jan Wahlström
Tommy Martinsson
Anders Oldfors
Published in Eur J Hum Genet
Volume 13
Issue 5
Pages 617-22
Publication year 2005
Published at Institute of Laboratory Medicine, Dept of Pathology
Institute for the Health of Women and Children, Dept of Paediatrics
Pages 617-22
Language en
Subject categories Medical and Health Sciences


We recently described a new autosomal dominant myopathy associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2). In this study, we performed mutation analysis of MYH2 in eight Swedish patients with familial myopathy of unknown cause. In two of the eight index cases, we identified novel heterozygous missense mutations in MYH2, one in each case: V970I and L1061V. The mutations were located in subfragment 2 of the MyHC and they changed highly conserved residues. Most family members carrying the mutations had signs and symptoms consisting mainly of mild muscle weakness and myalgia. In addition, we analyzed the extent and distribution of nucleotide variation in MYH2 in 50 blood donors, who served as controls, by the complete sequencing of all 38 exons comprising the coding region. We identified only six polymorphic sites, five of which were synonymous polymorphisms. One variant, which occurred at an allele frequency of 0.01, was identical to the L1061V that was also found in one of the families with myopathy. The results of the analysis of normal variation indicate that there is strong selective pressure against mutations in MYH2. On the basis of these results, we suggest that MyHC genes should be regarded as candidate genes in cases of hereditary myopathies of unknown etiology.

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