| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
6774061 |
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. J Neurol Sci. 1980;47(1):117-33. |
| Ataxia | ||
| Adult Electron Microscopy Females Friedreich Ataxia Homo sapiens Lactates Mitochondria, Muscle Muscle Tissue Myoclonic Epilepsy Pyruvates Syndrome |
Total: 11
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0002123 | Generalized myoclonic seizures | Very frequent (99-80%) |
| HP:0003198 | Myopathy | Very frequent (99-80%) |
| HP:0003200 | Ragged-red muscle fibers | Very frequent (99-80%) |
| HP:0003457 | EMG abnormality | Very frequent (99-80%) |
| HP:0100022 | Abnormality of movement | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0001012 | Multiple lipomas | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 10
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| MT-TP | mitochondrially encoded tRNA-Pro (CCN) | 4571 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | 4540 |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | 4567 |
| MT-TK | mitochondrially encoded tRNA-Lys (AAA/G) | 4566 |
| MT-RNR1 | mitochondrially encoded 12S rRNA | 4549 |
| MT-TQ | mitochondrially encoded tRNA-Gln (CAA/G) | 4572 |
| MT-TH | mitochondrially encoded tRNA-His (CAU/C) | 4564 |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | 4574 |
| MT-TS2 | mitochondrially encoded tRNA-Ser (AGU/C) 2 | 4575 |
| MT-TF | mitochondrially encoded tRNA-Phe (UUU/C) | 4558 |