Congenital universal muscular hypoplasia: evidence for autosomal recessive inheritance

Congenital universal muscular hypoplasia: evidence for autosomal recessive inheritance

Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder.

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Bibliographische Detailangaben
Veröffentlicht in:American journal of human genetics 1979-09, Vol.31 (5), p.548-554
Hauptverfasser: Pelias, M Z, Thurmon, T F
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Biopsy
Consanguinity
Female
Genes, Recessive
Humans
Male
Muscle Hypotonia - genetics
Muscles - pathology
Muscular Diseases - genetics
Pedigree
Phenotype
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Zusammenfassung:Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder.
ISSN:0002-9297
1537-6605