Article
Nail-patella syndrome associated with respiratory chain disorder.
European neurology - 1 Jan 2001
Finsterer J, Stöllberger C, Wanschitz J, Jaksch M, Budka H
Abstract excerpt
Nail-patella syndrome (NPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography...
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