Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism

Neuromuscular Disorders

Volumn 15, Issue 3, 2005, Pages 245-252

  Tsai, Tzung Chang ^a   Horinouchi, Hideo ^a   Noguchi, Satoru ^a   Minami, Narihiro ^a   Murayama, Kumiko ^a   Hayashi, Yukiko K ^a   Nonaka, Ikuya ^a   Nishino, Ichizo ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

CXorf6; Hypogenitalism; MTM1; MTMR1; Myotubular myopathy

Indexed keywords

GENE PRODUCT; GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; CENTRONUCLEAR MYOPATHY; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SPLICING; GENE DELETION; GENE FUSION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HYPOGONADISM; INFANT; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEXUAL DEVELOPMENT;

EID: 13844296526     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.12.005     Document Type: Article

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