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

Artikel i vetenskaplig tidskrift
Författare Homa Tajsharghi
Niklas Darin
Elham Rekabdar
Mårten Kyllerman
Jan Wahlström
Tommy Martinsson
Anders Oldfors
Publicerad i Eur J Hum Genet
Volym 13
Nummer/häfte 5
Sidor 617-22
Publiceringsår 2005
Publicerad vid Institutionen för laboratoriemedicin , Avdelningen för patologi
Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik
Sidor 617-22
Språk en
Länkar dx.doi.org/10.1038/sj.ejhg.5201375
Ämneskategorier Medicin och Hälsovetenskap

Sammanfattning

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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