title: A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.
authors.forename: C
authors.initials: C
authors.lastname: Guiraud-Chaumeil
authors.forename: M C
authors.initials: MC
authors.lastname: Vincent
authors.forename: J
authors.initials: J
authors.lastname: Laporte
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: F
authors.initials: F
authors.lastname: Samson
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D014960:X Chromosome
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin