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Charcot-Marie-Tooth disease type 2B; hereditary motor & sensory neuropathy 2 (CMT2B, HMSN2)

Pathology: - see Charcot-Marie-Tooth disease type-2 Genetics: - autosomal dominant - associated with defects in RAB7A Clinical manifestations: - marked distal muscle weakness - high frequency of foot ulcers, infections & amputations of the toes

Database Correlations

OMIM 600882

References

  1. OMIM :accession 600882
  2. UniProt :accession P51149