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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

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.[1]

References

  1. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Schwartz, M., Hertz, J.M., Sveen, M.L., Vissing, J. Neurology (2005) [Pubmed]
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