A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
case_series · Level IV
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- Record sourced from PubMed, PMID 16832103.
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Abstract
The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested gamma-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of gamma-sarcoglycan (SGCG). Patient 3 had del521T on her maternal allele and an exon 6 deletion on her paternal allele. Patients 1 and 2 are of Puerto Rican ancestry, suggesting the presence of a founder mutation in that population.
Medical subject headings
- Family Health
- Muscle Proteins
- Muscular Dystrophies, Limb-Girdle
- Mutation