Article
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).
Neuromuscular disorders : NMD - 1 Jun 2013
Pierson Tyler Mark, Markello Thomas, Accardi John, Wolfe Lynne, Adams David, Sincan Murat, Tarazi Noor M, Fajardo Karin Fuentes, Cherukuri Praveen F, Bajraktari Ilda, Meilleur Katy G, Donkervoort Sandra, Jain Mina, Hu Ying, Lehky Tanya J, Cruz Pedro, Mullikin James C, Bonnemann Carsten, Gahl William A, Boerkoel Cornelius F, Tifft Cynthia J
Abstract excerpt
Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification of a novel homozygous deletion of exon 7 in MEGF10. In contrast to previously reported EMARDD patients, her weakness was more...
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