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4 patient data entries in database for clusters W748S and 1 in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 166 | R953C1
| W748S5
| Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 51 | n/a | Tang et al, 2011; [view data] | | 346 | R953C1
| W748S5
| Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy | | | n/a | 50 | n/a | Tang et al, 2012; [view data] | | 420 | W748S5
E1143G
| A143V1
| Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement | | - | movement disorder (ataxia) | |
| | 40 | 49 | n/a | Amiot et al, 2009; [view data] | | 657 | I1185N1
| W748S5
| A 52-year-old male patient, treated for hypertension and diabetes. Progressive ataxia with palatal tremor (PAPT). progressive gait and balance difficulties since two years. audible ear click and oscillopsia. On neurological examination, he had pendular vertical nystagmus, dysarthria, kinetic and static ataxia with severe postural instability, as well as palatal tremor. He became wheelchair-bound within 4 years after the first symptoms. Family history was unremarkable on the maternal side and unknown on the paternal side. The mother of the patient died at the age of 86 without evidence of neurologic disease. | | - | movement disorder (ataxia) | |
| | 50 | 52 | n/a | Nicastro et al, 2015; [view data] |
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. Number of displayed patient cases: 4
Avg age of onset in displayed cases: 47.8
Std dev in onset in displayed cases: 4.5
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