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1 patient data entry collated from reference Prasun and Koeberl, 2014. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 527 | | D890A1
| 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. | | | 35 | 22 | n/a |
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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