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X-linked Recessive Myotubular Myopathy with a Splice-Site Mutation in the Myotubularin Gene
遺伝子異常を明らかにし得た重症型ミオチュブラー・ミオパチーの1例
1998
No to hattatsu = Brain and development
遺伝子異常を明らかにし得た重症型ミオチュブラー・ミオパチーの1例
Preserved Fulltext
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.
doi:10.11251/ojjscn1969.30.523
fatcat:rycirjx7drelxdorkhe6arui5i