Autosomal recessive distal myopathy.
نویسندگان
چکیده
Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of recessive distal dystrophy.
منابع مشابه
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
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ورودعنوان ژورنال:
- Journal of clinical pathology
دوره 41 2 شماره
صفحات -
تاریخ انتشار 1988