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Autosomal dominant slowed nerve conduction velocity
rareAutosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
- Identifiers
- MONDO:0011998 OMIM:608236Orphanet:140481
- Causal genes
- ARHGEF10
- Also known as
- slowed nerve conduction velocity, AD · slowed nerve conduction velocity, autosomal dominant · SNCV
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