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

TC Tsai, H Horinouchi, S Noguchi, N Minami… - Neuromuscular …, 2005 - Elsevier
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
mutations by genomic DNA and transcript analysis, including 12 novel mutations. Among 31
patients, including our previously reported five patients, the c. 1261-10A> G splice site
mutation was the most frequent mutation. Three mutations, one missense and two splice …