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GENATLAS PHENOTYPE

last update : 04-05-2012

Symbol	EMARDD
Location	5q23.2
Name	myopathy, areflexia, respiratory distress, and dysphagia
Corresponding gene	MEGF10
Main clinical features	congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis unusual combination of dystrophic and myopathic features on muscle biopsy (PMID: 22371254 variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)