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Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations
A Takano1, C G Bönnemann, H Honda
1Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 Japan. atakano@med.nagoya-u.ac.jp
Muscle & Nerve
|May 8, 2000
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.