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Charcot-Marie-Tooth disease type 2G (CMT2G)

Pathology: - axonal degeneration Genetics: 1) autosomal recessive 2) associated with defects in GDAP1 gene Clinical manifestations: - vocal paresis Laboratory: - GDAP1 gene mutation

Database Correlations

OMIM 607706

References

  1. OMIM :accession 607706
  2. UniProt :accession Q8TB36