MELAS syndrome
| Disorder | |
|---|---|
| OMIM #: | #540000 (Click to access OMIM database) |
| Disorder: | MELAS syndrome |
| Also known as: | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
| Clinical | |
| Phenotype: | lactic acidosis, seizures, hearing impairment, weakness, lethargy, diabetes mellitus, arrhythmia, cardiomyopathy, optic atrophy, retinal dystrophy, ataxia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. |
| Mutations | |
| 1 Amish | |
| Gene: | MTTL1 |
| Base Change: | m.3243A>C |
| Amino Acid Change: | |
| Last updated: | 2022-12-19 |
| References |
|---|
| Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. (2016) Mitochondrial respiratory chain disorders in the Old Order Amish
population. Mol Genet Metab 118(4):296-303. PubMed ID: 27344355 |
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