eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cardiomyopathy |
| Symptom | C0524851|neurodegenerative disorder |
| Sentences | 2 |
| PubMedID- 24327207 | Friedreich ataxia (frda), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is due to gaa repeat expansions within the first intron of the frataxin (fxn) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. |
| PubMedID- 25552656 | Friedreich's ataxia (frda) is a neurodegenerative disorder associated with cardiomyopathy and diabetes. |
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