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1 patient data entry collated from reference Montassir et al, 2014. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 523 | A957V1
| I1185T1
| Myocerebrohepatopathy spectrum (MCHS) disorder. Poor sucking and failure to thrive since, frequent vomiting, developmental regression, developmental delay, emesis, poor weight gain, lethargy. Hypotonia and hepatomegaly. Laboratory tests showed hepatocellular dysfunction and elevated protein and lactate levels in the cerebrospinal fluid. mtDNA depletion. Proximal dominant muscular weakness. All deep tendon reflexes were weak. Myoclonic jerks of the right and left arms were infrequently observed. She died of multiple organ failure caused by hepatic failure at 8 months of age. | | | 0.5 | 0.333 | 0.666 |
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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