title: X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
authors.forename: K
authors.initials: K
authors.lastname: Cox
authors.forename: M
authors.initials: M
authors.lastname: Gattas
authors.forename: P
authors.initials: P
authors.lastname: Harvey
authors.forename: C
authors.initials: C
authors.lastname: Dolphin
authors.forename: K
authors.initials: K
authors.lastname: Friend
authors.forename: S
authors.initials: S
authors.lastname: Yu
mesh_terms: D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; 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