Intrafamilial phenotypic variation in li
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A. Takano; C.G. BΓΆnnemann; H. Honda; M. Sakai; C.A. Feener; L.M. Kunkel; G. Sobu
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Article
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2000
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John Wiley and Sons
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English
β 864 KB
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 β₯-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. Sar