title: [X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].
abstract: We reported a male patient with X-linked myotubular myopathy in whom MTM 1 gene mutation was first identified in Japan. The patient had 9-nucleotide insertion between exons 11 and 12 due to aberrant splicing. The patient showed severe hypotonia and generalized muscle weakness at birth. Mechanical ventilation and tube feeding were necessary because of poor spontaneous respiration and sucking. On muscle biopsy, most of the muscle fibers were small and round, and had peripheral halos, showing immaturity. He had a moderate ventricular dilatation and mild brain atrophy on brain CT and MRI. However, whether these findings are causally related to the splice-site mutation remained obscure.
authors.affiliation: Department of Pediatrics, Yamagata Prefectural Hospital.
authors.forename: T
authors.initials: T
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: T
authors.initials: T
authors.lastname: Saito
authors.forename: A
authors.initials: A
authors.lastname: Higashitani
authors.forename: S
authors.initials: S
authors.lastname: Tanaka
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D002675:Child, Preschool; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D014960:X Chromosome
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin