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)

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-year old girl with EMARDD following identification of a novel homozygo...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3940074/
https://ncbi.nlm.nih.gov/pubmed/23453856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.01.013
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