LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

Marianne Schwartz, Jens Michael Hertz, Marie Louise Sveen, John Vissing
Neurology 2005 May 10, 64 (9): 1635-7
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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