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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0162674|progressive external ophthalmoplegia
Sentences 2
PubMedID- 25299315 A 43-year-old female patient diagnosed with chronic progressive external ophthalmoplegia (cpeo) because of mitochondrial myopathy documented by muscle biopsy is presented.
PubMedID- 23043144 Clinical presentations were variable, including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis in a young female who had received a liver transplant at 9 months of age and adult-onset lower motor neuron syndrome with mild cognitive impairment.

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