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3 patient data entries in database for mutation S1095R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 93 | S1095R3
| A467T2
| Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present. | | - | abnormal muscle histology | |
| - | delayed gastric emptying | |
| | 0.333 | n/a | 0.583 | Tang et al, 2011; [view data] | | 221 | D1184N1
| S1095R3
| Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3. | | - | demyelinating neuropathy | |
| | n/a | n/a | 3 | Blok et al, 2009; [view data] | | 222 | | S1095R3
| Onset 46 years with PEO, muscle weakness, optic atrophy, hearing loss, ptosis. | | | 46 | n/a | n/a | Wong et al, 2008; [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: 3
Avg age of onset in displayed cases: 16.4
Std dev in onset in displayed cases: 20.9
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