We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutations—Arg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, and Lys1729del in exons 32, 34, 35, and 36 of MYH7—in six families with early-onset distal myopathy. All five mutations are predicted, by in silico analysis, to locally disrupt the ability of the myosin tail to form the coiled coil, which is its normal structure. These findings demonstrate that heterozygous mutations toward the 3′ ...
Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of mus...
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of mus...
Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific ...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the...
Distal myopathies are a group of clinically and pathologically overlapping muscle diseases that are ...
Background: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mut...
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skelet...
Background: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mut...
Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectr...
Background: Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide pheno...
Over 20 mutations in β-cardiac myosin heavy chain (β-MHC), expressed in cardiac and slow muscle fibe...
Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of mus...
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of mus...
Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific ...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM reg...
Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the...
Distal myopathies are a group of clinically and pathologically overlapping muscle diseases that are ...
Background: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mut...
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skelet...
Background: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mut...
Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectr...
Background: Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide pheno...
Over 20 mutations in β-cardiac myosin heavy chain (β-MHC), expressed in cardiac and slow muscle fibe...
Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of mus...
BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of mus...
Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific ...