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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