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Charcot-Marie-Tooth disease axonal type 2Q
rareAutosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
- Identifiers
- MONDO:0014012 OMIM:615025Orphanet:329258
- Causal genes
- DHTKD1
- Also known as
- autosomal dominant Charcot-Marie-Tooth disease type 2Q · Charcot-Marie-Tooth disease caused by mutation in DHTKD1 · Charcot-Marie-Tooth disease type 2Q · Charcot-Marie-Tooth disease, axonal, type 2Q · CMT2Q
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