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t/gene-mtm1

MTM1 gene

Discuss publications and research concerning the MTM1 gene.

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Related literature

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.
MTM1
Congenital myopathies: pathophysiological mechanisms and promising therapies.
MTM1
Genetic basis and phenotypic features of congenital myasthenic syndromes.
MTM1
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.
MTM1
Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
MTM1
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.
MTM1
Mutation studies in X-linked myotubular myopathy in three Indian families.
MTM1
Gene symbol: MTM1. Disease: Myotubular myopathy.
MTM1
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
MTM1

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