X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene

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 ve...

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Bibliographic Details
Published inNo to hattatsu Vol. 30; no. 6; p. 523
Main Authors Watanabe, T, Watanabe, M, Saito, T, Higashitani, A, Tanaka, S, Nishino, I, Nonaka, I
Format Journal Article
LanguageJapanese
Published Japan 01.11.1998
Subjects
Child, Preschool
Genetic Linkage
Humans
Male
Muscular Diseases - genetics
Mutation
Protein Tyrosine Phosphatases - genetics
Protein Tyrosine Phosphatases, Non-Receptor
X Chromosome
Online AccessGet more information
ISSN0029-0831
DOI10.11251/ojjscn1969.30.523

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Summary: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.
ISSN:0029-0831
DOI:10.11251/ojjscn1969.30.523