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- W4242108167 abstract "Among various previously described distal myopathies, several diseases have now been established as clinically and genetically distinct entities. The most representative diseases are dominantly inherited Welander distal myopathy and tibial muscular dystrophy, and the recessively inherited distal myopathy with rimmed vacuoles and distal muscular dystrophy (Miyoshi myopathy). Since the discovery of the gene loci for several distal myopathies, several diseases previously categorized as different disorders have now proven to be the same or allelic disorders (e.g. distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy, Miyoshi myopathy and limb-girdle muscular dystrophy with gene locus at 2p13). Except for Miyoshi myopathy, which has the typical findings of muscular dystrophy, most of the distal myopathies share the common pathologic features of myopathic changes with rimmed vacuoles. The pathologic changes are somewhat similar to those seen in chronic muscular dystrophy, but necrotic and regenerative processes are less prominent and creatine kinase levels are either normal or only mildly elevated. Further study is necessary to determine why rimmed vacuoles are so common in the distal myopathies, and what role they play in the pathogenesis of muscle fibre atrophy and loss, predominantly in the distal portions of the extremities." @default.
- W4242108167 created "2022-05-12" @default.
- W4242108167 creator A5001477991 @default.
- W4242108167 date "1999-10-01" @default.
- W4242108167 modified "2023-09-30" @default.
- W4242108167 title "Distal myopathies" @default.
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- W4242108167 doi "https://doi.org/10.1097/00019052-199910000-00002" @default.
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