Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MTM1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MTM1

Definition : Molecular assay reagents intended to identify mutations in the myotubular myopathy 1 (MTM1) gene, located at chromosome Xq28, which encodes for a lipid phosphatase required for muscle cell differentiation. Mutations at this locus have been identified in patients with X-linked myotubular myopathy type 1 (also called X-linked centronuclear myopathy).

Entry Terms : "X-Linked Myotubular Myopathy (XLMTM1) Gene Mutation Reagents" , "Centronuclear Myopathy Gene Mutation Reagents" , "Myotubular Myopathy Type 1 (MTM1) Gene Mutation Reagents" , "MTM1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MTM1"

UMDC code : 24620

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