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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease neuropathy, peripheral
Comorbidity C0029124|optic atrophy
Sentences 1
PubMedID- 22815638 This phenotypic association of peripheral neuropathy with optic atrophy is also present in hereditary motor and sensory neuropathy type vi with optic atrophy (omim 601152) caused by mutations in mitofuscin 2 (mfn2) [10], encoding another mitochondrial protein, emphasizing the important role of mitochondrial function for optic atrophies and peripheral neuropathies.

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