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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cardiomyopathy
Comorbidity C0442874|neuropathy
Sentences 2
PubMedID- 21687738 The consequence of deficiency on frataxin is that patients have progressive gait and limb ataxia, slurred speech, and peripheral axonal neuropathy associated with hypertrophic cardiomyopathy, diabetes mellitus or glucose intolerance and skeletal deformities.
PubMedID- 24358189 All these hot spots lead to cardiomyopathies exclusively or associated with a peripheral neuropathy component.

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