PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0004134|ataxia |
| Sentences | 4 |
| PubMedID- 21863273 | Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy. |
| PubMedID- 21985033 | Interestingly, myopathy without ataxia associated with impaired isc synthesis was described recently [23]. |
| PubMedID- 19647794 | The combination of sensory and cerebellar ataxia with myopathy means patients becomes progressively disabled over a period of several decades. |
| PubMedID- 25447692 | We report a patient with multisytemic disease characterised by myopathy, spinal ataxia, sensorineural hearing loss, cataract and cognitive impairment in whom a novel m.7539c>t mt-trna(asp) transition was identified. |
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