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Charcot-Marie-Tooth disease type 2K (CMT2K)

Pathology: - axonal degeneration Genetics: 1) autosomal recessive 2) associated with defects in GDAP1 gene Clinical manifestations: - onset is in early childhood (< 3 years of age) - foot deformities - kyphoscoliosis - distal limb muscle weakness & atrophy - areflexia - diminished sensation in the lower limbs - weakness in upper limbs in 1st decade of life - clawing of the fingers. Laboratory: - GDAP1 gene mutation

Database Correlations

OMIM 607831

References

  1. OMIM :accession 607831
  2. UniProt :accession Q8TB36