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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p (1994)

Author(s): R. Bashir;T. Strachan;S. Keers;A. Stephenson;I. Mahjneh;G. Marconi;L. Nashef;K. M. Bushby

  • : A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

Abstract: The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large inbred families of different ethnic origin and excluded linkage to LGMD2 on chromosome 15q and SCARMD on chromosome 13. Proceeding to a genomic linkage search, we have now identified linkage to markers D2S134 and D2S136 on chromosome 2p (maximum lod score 3.57 at zero recombination). The phenotype in the two families was similar, with onset in the pelvic girdle musculature in the late teens and usually relatively slow progression. This work identifies a second locus for autosomal recessive limb-girdle muscular dystrophy.

Notes: 0964-6906 Journal Article

  • Short Title: A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
  • Date: Mar
  • Journal: Hum Mol Genet
  • Volume: 3
  • Issue: 3
  • Pages: 455-7
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Adolescent Adult Aged Child Child, Preschool Chromosome Mapping *Chromosomes, Human, Pair 2 Consanguinity Female *Genes, Recessive Humans Linkage (Genetics) Lod Score Male Middle Aged Muscular Dystrophies/*genetics Pedigree Phenotype Research Support, Non-U.S. Gov't

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