Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual combination of dystrophic and myopathic features on muscle biopsy. W...

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Detalhes bibliográficos
Main Authors: Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2012
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3332380/
https://ncbi.nlm.nih.gov/pubmed/22371254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-012-0315-z
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