This case report provides evidence for an autosomal recessive inheritance pattern in the severe infantile form of nemaline myopathy.
May inform genetic counseling in infantile nemaline myopathy families; leaves open confirmation via genetic studies in larger cohorts.
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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Cartwright et al. (1990) studied this question.
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