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C134952Level 9

Charcot-Marie-Tooth Disease Type 2A

**Semantic type:** Disease or Syndrome

**Definition:** Charcot-Marie-Tooth caused by mutation(s) in the MFN2 gene, encoding mitofusin-2. It results in peripheral axonal neuropathy.

**Synonyms:** - Axonal Charcot-Marie-Tooth Disease Type 2A2 - CMT2A

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