Nemaline Myopathy: a Report of Two Siblings As Evidence of Autosomal Recessive Inheritance of the Infantile Type
Overview
Overview
Journal
Postgrad Med J
Publisher
Oxford University Press
Specialty
General Medicine
Date
1990 Nov 1
PMID
2267214
Citations
1
Authors
Authors
Affiliations
Affiliations
Soon will be listed here.
Abstract
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.
Citing Articles
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
North K, Laing N, Wallgren-Pettersson C J Med Genet. 1997; 34(9):705-13.
PMID: 9321754 PMC: 1051052. DOI: 10.1136/jmg.34.9.705.
References
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2.
Arts W, BETHLEM J, Dingemans K, Eriksson A
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McComb R, Markesbery W, OConnor W
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