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Paper Details

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Neuromuscul Disord
23
2013
EMARDD, Early-onset myopathy, MEGF10, SNP, areflexia, deletion breakpoint, dysphagia, exon, exon 7, fatty replacement, girl, muscle atrophy, myopathic disorder, myopathy, patients, respiratory distress, weakness

Datasets

Release 1.2