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| Term | mitochondrial axonal Charcot-Marie-Tooth disease | ID (Ontology) | DOID:0061168 (Human Disease) |
| Definition | A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome. | ||
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neuromuscular disease |__Charcot-Marie-Tooth disease |__mitochondrial axonal Charcot-Marie-Tooth disease |
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| Is a | Charcot-Marie-Tooth disease | ||
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| MIM:500013 | |||