Article
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.
Neuromuscular disorders : NMD - 1 May 2001
Cagliani R, Comi G P, Tancredi L, Sironi M, Fortunato F, Giorda R, Bardoni A, Moggio M, Prelle A, Bresolin N, Scarlato G
Abstract excerpt
We report an unusual presentation of a primary beta-sarcoglycanopathy (LGMD type 2E). A 12- year-old boy came to our attention after six episodes of exercise-induced myoglobinuria. Electromyogram showed mild myopathic features of the proximal lower limb muscles. Electrocardiogram was normal. Neurological examination revealed normal muscle strength and reduced deep tendon reflexes. A muscle biopsy showed rare...
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