[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 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.
Watanabe
T
T
Department of Pediatrics, Yamagata Prefectural Hospital.
Watanabe
M
M
Saito
T
T
Higashitani
A
A
Tanaka
S
S
Nishino
I
I
Nonaka
I
I
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
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin