Genetic localization of a newly recognized autosomal dominant limb- girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21

A. J. Van Der Kooi, M. Van Meegen, T. M. Ledderhof, E. M. McNally, M. De Visser, P. A. Bolhuis

Research output: Contribution to journalArticlepeer-review

127 Scopus citations

Abstract

Limb-girdle muscular dystrophy (LGMD) constitutes a clinically and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness. One autosomal dominant family, LGMD1A, has been linked to chromosome 5q, whereas in other autosomal dominant families linkage to this chromosome has been excluded. We studied 58 members of three families with a newly recognized autosomal dominantly inherited LGMD with cardiac involvement. A search with highly polymorphic microsatellite markers was carried out. The gene for this newly recognized dominant form of LGMD was located on chromosome 1q11-21, with a combined maximum two-point LOD score >12 at θ = 0.

Original languageEnglish (US)
Pages (from-to)891-895
Number of pages5
JournalAmerican Journal of Human Genetics
Volume60
Issue number4
StatePublished - Apr 1 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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