A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

doi:10.1016/j.ajhg.2011.05.010

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Article

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

American journal of human genetics - 10 Jun 2011

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

Abstract excerpt

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 unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle...

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Identifiers

PMID: 21665002
DOI: 10.1016/j.ajhg.2011.05.010
PMCID: PMC3113344

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CHKB

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