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Charcot-Marie-Tooth disease axonal type 2K
rareAutosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
- Identifiers
- MONDO:0011916 OMIM:607831Orphanet:101097
- Also known as
- ARCMT2K · autosomal recessive axonal Charcot-Marie-Tooth disease type 2K · autosomal recessive axonal CMT4C4 · autosomal recessive Charcot-Marie-Tooth disease with hoarseness · Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K
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