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Charcot-Marie-Tooth disease type 2A1
rareAutosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
- Identifiers
- MONDO:0007308 OMIM:118210Orphanet:99946
- Causal genes
- KIF1B
- Also known as
- Charcot Marie Tooth disease type 2A · Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B · Charcot-Marie-Tooth disease type 2A · Charcot-Marie-Tooth disease, axonal, type 2A · Charcot-Marie-Tooth disease, axonal, type 2A1
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