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Charcot-Marie-Tooth disease type 2D (CMT2D)

Pathology: - non-demyelinating (axonal) neuropathy - axonal regeneration in the absence of obvious myelin alterations Genetics: 1) autosomal dominant 2) associated with defects in GARS Clinical manifestations: - more severe phenotype in upper extremities than in lower limbs - severe weakness & atrophy - absence of tendon reflexes

Database Correlations

OMIM 601472

References

  1. OMIM :accession 601472
  2. UniProt :accession P41250