Condition: Charcot-Marie-Tooth disease, Type 2J


rs121913595 in MPZ gene and Charcot-Marie-Tooth disease, Type 2J PMID 16775239 2006 Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.

PMID 11080237 2000 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

PMID 15326256 2004 Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

PMID 10071056 1999 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.