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) von 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

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Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibril... von Lin, Xiaoyan, Ruiz, Janelle, Bajraktari, Ilda, Ohman, Rachel, Banerjee, Soojay, Gribble, Katherine, Kaufman, Joshua D., Wingfield, Paul T., Griggs, Robert C., Fischbeck, Kenneth H., Mankodi, Ami

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Mutations In Zaspopathy Cause Disruption Of Actinin-Crosslinked Actin Filaments, The Core Structure Of Skeletal Muscle Z-discs (S61.007) von Lin, Xiaoyan, Ruiz, Janelle, Bajraktari, Ilda, Ohman, Rachel, Griggs, Robert, Fischbeck, Kenneth, Mankodi, Ami

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