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Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.

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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Bibliographische Detailangaben
Hauptverfasser: Cartwright, J. D., Castle, D. J., Duffield, M. G., Reef, I.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 1990
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2429764/
https://ncbi.nlm.nih.gov/pubmed/2267214
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