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

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.

• Authors: A Takano, C G Bönnemann, H Honda, M Sakai, C A Feener, L M Kunkel, G Sobue
• Journal: Muscle & nerve (Muscle Nerve) Vol. 23 Issue 5 Pg. 807-10 (May 2000) ISSN: 0148-639X [Print] United States
• PMID: 10797406 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2000 John Wiley & Sons, Inc.

Chemical References

• Cytoskeletal Proteins
• Membrane Glycoproteins
• Sarcoglycans

Topics

• 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, pathology, physiopathology)
• Nuclear Family
• Phenotype
• Sarcoglycans
• Sequence Deletion
• White People