title: Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
abstract: The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.
authors.affiliation: Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA.
authors.forename: P M
authors.initials: PM
authors.lastname: Grogan
authors.forename: S M
authors.initials: SM
authors.lastname: Tanner
authors.forename: K H
authors.initials: KH
authors.lastname: Ørstavik
authors.forename: G P S
authors.initials: GP
authors.lastname: Knudsen
authors.forename: D S
authors.initials: DS
authors.lastname: Saperstein
authors.forename: H
authors.initials: H
authors.lastname: Vogel
authors.forename: R J
authors.initials: RJ
authors.lastname: Barohn
authors.forename: L L
authors.initials: LL
authors.lastname: Herbelin
authors.forename: A L
authors.initials: AL
authors.lastname: McVey
authors.forename: J S
authors.initials: JS
authors.lastname: Katz
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003964:Diaphragm / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D007839:Functional Laterality / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D049951:X Chromosome Inactivation / Q000235:genetics
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin