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MTM1 mutations in X-linked myotubular myopathy
Human Mutation, 2000X-linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosphatase Sbf1/hMTMR5).
Laporte, Jocelyn +10 more
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Foot Deformity in Myotubular Myopathy
Archives of Neurology, 1983An intrinsic foot muscle biopsy specimen was taken from a patient with myotubular myopathy who underwent surgical correction for orthopedic deformity. Pathologic findings were typical of primary muscle disease. Foot deformity in myotubular myopathy may result from abnormalities of intrinsic foot muscles, as well as those of more proximal musculature.
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Genetics of the nemaline myopathies and the myotubular myopathies
Neuromuscular Disorders, 1998openaire +2 more sources
Myotubular myopathy in a female
Neuromuscular Disorders, 1997T.R. Helliwell +2 more
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Nemaline myopathy and the myotubular myopathies
Neuromuscular Disorders, 1997openaire +1 more source