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1 patient data entry collated from reference Prasun and Koeberl, 2014.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
The patient had bilateral cataracts removed in early childhood. He developed chronic diarrhea and weight loss in his 20s, which were associated with a rash that on biopsy showed features of dermatitis herpetiformis. At the age of 35 years, the patient presented with weakness of upper extremities and bilateral ptosis. A muscle biopsy revealed ragged-red fibers and cytochrome c oxidase (COX) negative fibers. impaired upgaze. cachexia. chronic myopathy and severe sensory neuropathy. progressive gastrointestinal dysmotility. mtDNA deletions. hypogonadism, hypothyroidism, and osteopenia.
-ragged red fibers
-GI dysmotility

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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