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Charcot-Marie-Tooth disease type 4C (CMT4C)
Also see Charcot-Marie-Tooth disease
Pathology:
- demyelination of motor & sensory neurons
- distinct Schwann cell pathology
Genetics:
1) autosomal recessive
2) associated with defects in SH3TC2 gene
Clinical manifestations:
- childhood-onset
- early-onset scoliosis
Database Correlations
OMIM 601596
References
OMIM :accession 601596