Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.
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.
Sutton
I J
IJ
Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. iansutton@hotmail.com
Winer
J B
JB
Norman
A N
AN
Liechti-Gallati
S
S
MacDonald
F
F
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*
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin