An autosomal dominant type of congenital muscular dystrophy

A family with an autosomal dominant type of congenital muscular dystrophy (CMD) will be reported. In general, an autosomal recessive mode of inheritance is accepted for CMD. In 1980, Kalyanaraman et al reported another family with an autosomal dominant CMD with possible involvement of the central ne...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 1986, Vol.8 (5), p.533-537
Hauptverfasser:	Leyten, Quint H, Gabreëls, Fons JM, Joosten, Ed MG, Renier, Willy O, Ter Laak, Henk J, Ter Haar, Ben GA, Stadhouders, Ad M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult autosomal dominant inheritance Biological and medical sciences Biopsy Child Congenital muscular dystrophy Diseases of striated muscles. Neuromuscular diseases Female Genes, Dominant Humans Male Medical sciences Microscopy, Electron Mitochondria, Muscle - ultrastructure mitochondrial myopathy Muscles - pathology Muscular Dystrophies - genetics Muscular Dystrophies - pathology Neurology Pedigree
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Zusammenfassung:	A family with an autosomal dominant type of congenital muscular dystrophy (CMD) will be reported. In general, an autosomal recessive mode of inheritance is accepted for CMD. In 1980, Kalyanaraman et al reported another family with an autosomal dominant CMD with possible involvement of the central nervous system (CNS). Our report concerns a father and daughter suffering from CMD without CNS involvement. The histological findings, especially some mitochondrial abnormalities in the muscle biopsy were remarkable.
ISSN:	0387-7604 1872-7131
DOI:	10.1016/S0387-7604(86)80099-7