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Tsai et al., 2005 - Google Patents

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male …

Tsai et al., 2005

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Document ID
2991735977553537011
Author
Tsai T
Horinouchi H
Noguchi S
Minami N
Murayama K
Hayashi Y
Nonaka I
Nishino I
Publication year
Publication venue
Neuromuscular Disorders

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X-linked myotubular myopathy is a congenital muscle disorder due to MTM1 mutation, and is characterized clinically by generalized muscle weakness and hypotonia at birth usually resulting in early death. We newly identified 26 unrelated Japanese patients with MTM1 …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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