title: A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
abstract: The mutation is a C to T transition at nucleotide 811 of the MTM1 gene (OMIM 310400) leading to premature termination of translation at codon 271 of the myotubularin protein (R271X).
authors.affiliation: Cattedra di Genetica Umana e Genetica Medica, Università di Roma Tor Vergata e Istituto CSS-Mendel, Roma, Italy.
authors.forename: A
authors.initials: A
authors.lastname: De Luca
authors.forename: I
authors.initials: I
authors.lastname: Torrente
authors.forename: M
authors.initials: M
authors.lastname: Mangino
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin