Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.
نویسندگان
چکیده
We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.
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ورودعنوان ژورنال:
- Postgraduate medical journal
دوره 66 781 شماره
صفحات -
تاریخ انتشار 1990