Article
Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.
Clinical genetics - 1 May 1996
Takenaka T, Sakuraba H, Hashimoto K, Fujino O, Fujita T, Tanaka H, Suzuki Y
Abstract excerpt
Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining. The myopathic symptoms progressed, and he died of pneumonia at 24 years of age. No clinical manifestations of Fabry...
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