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    Neurology. 2006 Jul 11;67(1):167-9.

    A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

    Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM.

    Source

    Program in Genomics, the Howard Hughes Medical Institute, Boston, MA, USA.

    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.

    PMID:
    16832103
    [PubMed - indexed for MEDLINE]

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