title: Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.
abstract: Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness. It is proposed that manifesting heterozygote females with XLMTM have a skewed pattern of X-chromosome inactivation. However, skewed X-chromosome inactivation was not detected in either the lymphocyte or muscle DNA of a woman who presented with limb girdle/facial weakness and was found to be heterozygous for the R224X mutation.
authors.affiliation: Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. iansutton@hotmail.com
authors.forename: I J
authors.initials: IJ
authors.lastname: Sutton
authors.forename: J B
authors.initials: JB
authors.lastname: Winer
authors.forename: A N
authors.initials: AN
authors.lastname: Norman
authors.forename: S
authors.initials: S
authors.lastname: Liechti-Gallati
authors.forename: F
authors.initials: F
authors.lastname: MacDonald
mesh_terms: D000328:Adult; D004303:Dosage Compensation, Genetic; D005121:Extremities / Q000473:pathology; D005145:Face / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D018908:Muscle Weakness / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D014960:X Chromosome / Q000235:genetics*
chemical_list: D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin