Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.

Abstract

An 11-year-old white female presented with progressive proximal muscle weakness and marked calf hypertrophy. Muscle biopsy showed severe dystrophy with normal expression of dystrophin. There was complete absence of the 50kDa dystrophin-associated glycoprotein (alpha-sarcoglycan). DNA analysis showed novel point mutations (one missense and one splicing) in… (More)

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Cite this paper

@article{Quinlivan1997AbsenceOA, title={Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.}, author={Ros C M Quinlivan and Stephanie A. Robb and Caroline A. Sewry and Victor Dubowitz and Federica Piccolo and Jean Claude Kaplan}, journal={Developmental medicine and child neurology}, year={1997}, volume={39 11}, pages={770-4} }