A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly...

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Main Authors: Mitsuhashi, Satomi, Ohkuma, Aya, Talim, Beril, Karahashi, Minako, Koumura, Tomoko, Aoyama, Chieko, Kurihara, Mana, Quinlivan, Ros, Sewry, Caroline, Mitsuhashi, Hiroaki, Goto, Kanako, Koksal, Burcu, Kale, Gulsev, Ikeda, Kazutaka, Taguchi, Ryo, Noguchi, Satoru, Hayashi, Yukiko K., Nonaka, Ikuya, Sher, Roger B., Sugimoto, Hiroyuki, Nakagawa, Yasuhito, Cox, Gregory A., Topaloglu, Haluk, Nishino, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113344/
https://ncbi.nlm.nih.gov/pubmed/21665002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.05.010
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