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GENATLAS PHENOTYPE

last update : 07-12-2011

Symbol	SPM1
Location	Xq26.3
Name	scapuloperoneal myopathy 1
Corresponding gene	FHL1
Other symbol(s)	SPM
Main clinical features	early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias myopathy with scapulo-peroneal and/or axial distribution, as well as joint contractures, and associated with a peculiar cardiac disease characterized by conduction defects, arrhythmias, and hypertrophic cardiomyopathy
Genetic determination	sex linked
Function/system disorder	neuromuscular
Type	disease

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