期刊
NEUROLOGY
卷 64, 期 9, 页码 1635-1637出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000157654.59374.E5
关键词
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LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I.
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