title: MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.
abstract: The severe infantile form of myotubular myopathy is a fatal muscle disease that predominantly affects male infants and is characterized by severe weakness and hypotonia from birth. X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin. We screened the MTM1 gene for mutations in seven Japanese patients (six males and one female) who had the diagnosis of severe infantile form of myotubular myopathy. We found five mutations, including three novel mutations based on sequence analysis of RT-PCR fragments covering the entire open reading frame. Two patients (one male and one female), who had similar clinicopathologic features, did not have any mutation in the MTM1 gene open reading frame, suggesting that they may have had an autosomal recessive disease.
authors.affiliation: Department of Ultrastructural Research, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. in29@columbia.edu
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: N
authors.initials: N
authors.lastname: Minami
authors.forename: O
authors.initials: O
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Ikezawa
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements; D004303:Dosage Compensation, Genetic; D005091:Exons / Q000235:genetics; D005260:Female; D005796:Genes / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D018895:Microsatellite Repeats; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D017384:Sequence Deletion
chemical_list: D004251:DNA Transposable Elements; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin