Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: case report and literature review of MTM1 manifesting female carriers


• We report a woman with a progressive myopathy due to a MTM1 gene mutation.• We review 26 cases of female MTM1 manifesting carriers.• Necklace fibers appear to be a sensitive and specific pathologic finding.


Leave A Reply