Early-onset myopathy, areflexia, respiratory distress, and dysphagia

Definition:

Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMRDD) is an autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual features on muscle biopsy. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause EMRDD.

References:

[1]. Clare V Logan, et al. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet. 2011 Nov 20;43(12):1189-92. [Content Brief]

[2]. Steven E Boyden, et al. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May;13(2):115-24. [Content Brief]

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