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NEUROLOGY 2005;64:1635-1637
© 2005 American Academy of Neurology
Brief Communications

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

Marianne Schwartz, PhD, Jens Michael Hertz, MD, PhD, Marie Louise Sveen, MD and John Vissing, MD, PhD

From the Department of Clinical Genetics (Dr. Schwartz), the Department of Neurology (Drs. Sveen and Vissing), and the Copenhagen Muscle Research Center (Drs. Sveen and Vissing), National University Hospital, Rigshospitalet, Copenhagen, Denmark; and the Department of Clinical Genetics (Dr. Hertz), Aarhus University Hospital, Aarhus, Denmark

Address correspondence and reprint requests to Dr. Marianne Schwartz, Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100, Copenhagen, Denmark; e-mail schwartz{at}rh.hosp.dk

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.

See Editorial, page 1498

Supported by a grant from the Danish Medical Research Council (22-00-1056).

Received November 11, 2004. Accepted in final form January 17, 2005.


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Continued need for caution in the diagnosis of Duchenne muscular dystrophy
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Neurology 2005 64: 1498-1499. [Full Text] [PDF]



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R. C. Griggs and K. Bushby
Continued need for caution in the diagnosis of Duchenne muscular dystrophy
Neurology, May 10, 2005; 64(9): 1498 - 1499.
[Full Text] [PDF]


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