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

✍ Scribed by A. Takano; C.G. Bönnemann; H. Honda; M. Sakai; C.A. Feener; L.M. Kunkel; G. Sobue

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
864 KB
Volume
23
Category
Article
ISSN
0148-639X

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✦ Synopsis

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 ␥-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.

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