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Article

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

Muscle & nerve - 1 May 2000

Takano A, Bönnemann C G, Honda H, Sakai M, Feener C A, Kunkel L M, Sobue G

Abstract excerpt

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...

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PMID: 10797406
DOI: 10.1002/(sici)1097-4598(200005)23:5<807::aid-mus20>3.0.co;2-0

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