Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

James M. Gilchrist, Margaret Pericak-Vance, Larry Silverman, Allen D. Roses

Research output: Contribution to journalArticlepeer-review

86 Scopus citations

Abstract

Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm and leg muscles. The disease occurs either sporadically or inherited as an autosomal recessive trait. Autosomal dominant inheritance is rare. We report a large family with apparent autosomal dominant inheritance. Sixteen members were affected with a disease characterized by proximal weakness, leg greater than arm, onset in the third decade, elevated CK and CK MB levels, and myopathic EMGs and muscle biopsies. Linkage analysis revealed no conclusive linkage.

Original languageEnglish (US)
Pages (from-to)5-9
Number of pages5
JournalNeurology
Volume38
Issue number1
DOIs
StatePublished - Jan 1988
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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