G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Autor: Meilleur, K.G., Pierson, T.M., Jain, M., Donkervoort, S., Markello, T., Wolfe, L., Accardi, J., Adams, D., Sincan, M., Fuentes-Fajardo, K., Cherukuri, P.F., Cruz, P., Bajraktari, I., Lehky, T., Teer, J.K., Mullikin, J.C., Gahl, W.A., Boerkoel, C.F., Tifft, C.J., Bonnemann, C.G.
Zdroj: In Neuromuscular Disorders October 2012 22(9-10):870-871
Databáze: ScienceDirect