Article
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics - 1 May 2012
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
Abstract excerpt
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. Whole genome sequence from one affected subject was filtered using linkage data and variant databases. A single gene,...
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