Browsing by Author "Mitsuhashi, S"

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    • Mutations in the Satellite Cell Gene MEGF10 Cause a Recessive Congenital Myopathy with Minicores 

      Mahoney, Lane J.; Myers, Jennifer A.; Estrella, Elicia A.; Duncan, Anna R.; Dey, Friederike; DeChene, Elizabeth T.; Blasko-Goehringer, Jessica M.; Bönnemann, Carsten G.; Mendell, Jerry R.; Nishino, Ichizo; Boyden, Steven Edward; Kawahara, Genri; Mitsuhashi, Satomi; Darras, Basil T.; Lidov, Hart G.W.; Beggs, Alan Hendrie; Kunkel, Louis Martens; Kang, Peter Byung-Hoon (Springer-Verlag, 2012)
      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 ...