MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

Neuromuscular Disorders

Volumn 8, Issue 7, 1998, Pages 453-458

  Nishino, Ichizo ^a,b   Minami, Narihiro ^a   Kobayashi, Osamu ^a   Ikezawa, Makoto ^a   Goto, Yu Ichi ^a   Arahata, Kiichi ^a   Nonaka, Ikuya ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b New York Presbyterian Columbia University Medical Center   (United States)

Author keywords

Aberrant splicing; Congenital myopathy; Mutation; Myotubular myopathy; Severe infantile form; Skeletal muscle; X linked

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; INFANT; JAPAN; MALE; MUSCLE BIOPSY; NEWBORN; OPEN READING FRAME; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; DOSAGE COMPENSATION, GENETIC; EXONS; FEMALE; GENES; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MICROSATELLITE REPEATS; MUSCULAR DISEASES; MUTATION; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE DELETION;

EID: 0032190896     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00075-3     Document Type: Article

References (9)

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