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P1.16 Novel mutations and loci are associated with limb girdle muscular dystrophy type 2

✍ Scribed by S.E. Boyden; M.A.M. Salih; E.A. Estrella; A.J. White; A.R. Duncan; S.L. Burgess; M.Z. Seidahmed; R.R. Bennett; L.M. Kunkel; P.B. Kang


Book ID
116794461
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
51 KB
Volume
20
Category
Article
ISSN
0960-8966

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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