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

American Journal of Human Genetics

Volumn 88, Issue 6, 2011, Pages 845-851

  Mitsuhashi, Satomi ^a   Ohkuma, Aya ^a   Talim, Beril ^b   Karahashi, Minako ^c   Koumura, Tomoko ^c   Aoyama, Chieko ^d   Kurihara, Mana ^e   Quinlivan, Ros ^f,g   Sewry, Caroline ^f,h   Mitsuhashi, Hiroaki ^a   Goto, Kanako ^a   Koksal, Burcu ^b   Kale, Gulsev ^b   Ikeda, Kazutaka ⁱ   Taguchi, Ryo ⁱ   Noguchi, Satoru ^a   Hayashi, Yukiko K ^a   Nonaka, Ikuya ^a   Sher, Roger B ^j   Sugimoto, Hiroyuki ^d   Nakagawa, Yasuhito ^c   Cox, Gregory A ^j   Topaloglu, Haluk ^b   Nishino, Ichizo ^a   more..

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b HACETTEPE UNIVERSITY   (Turkey)

^c KITASATO UNIVERSITY   (Japan)

^d DOKKYO MEDICAL UNIVERSITY   (Japan)

^e KANAGAWA REHABILITATION CENTER   (Japan)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^h ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF TOKYO   (Japan)

^j JACKSON LABORATORY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE KINASE; PHOSPHATIDYLCHOLINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LIPOGENESIS; MALE; MENTAL DEFICIENCY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLINE KINASE; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MITOCHONDRIA, MUSCLE; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHOSPHATIDYLCHOLINES; POLYMORPHISM, GENETIC; YOUNG ADULT;

EUKARYOTA;

EID: 79958850438     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.05.010     Document Type: Article

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