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Charcot-Marie-Tooth disease dominant intermediate B (CMTDIB)
Also see Charcot-Marie-Tooth disease
Pathology:
- peripheral (axonal) neuropathy
- intermediate between demyelinating & axonal peripheral neuropathies
Genetics:
- associated with defects in DNM2
Laboratory:
- nerve conduction studies
1) motor median nerve conduction velocities ranging from 25 to 45 m/sec
Database Correlations
OMIM 606482
UniProt P50570
References
UniProt :accession P54577