Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations

Muscle Nerve. 2000 May;23(5):807-10. doi: 10.1002/(sici)1097-4598(200005)23:5<807::aid-mus20>3.0.co;2-0.

Abstract

Two Japanese-Brazilian siblings with type 2C limb girdle muscular dystrophy showed a maternal 521-T deletion in exon 6 and a larger paternal deletion of exon 6 in the gamma-sarcoglycan gene. One sib was ambulant at 29 years of age, whereas the other sib was confined to a wheelchair at the age of 12. Sarcoglycan staining of the muscle was reduced in both siblings but it did not correlate with the observed variability of the clinical severity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People
  • Brazil
  • Child
  • Cytoskeletal Proteins / genetics*
  • Exons
  • Female
  • Genetic Carrier Screening
  • Genetic Variation*
  • Genomic Imprinting
  • Humans
  • Japan / ethnology
  • Male
  • Membrane Glycoproteins / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology
  • Nuclear Family
  • Phenotype
  • Sarcoglycans
  • Sequence Deletion
  • White People

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans