Disease: Charcot Marie Tooth disease deafness recessive type
- A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4
- A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom
- A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
- Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2
- Charcot-Marie-Tooth disease. Clinical study in 45 patients
- Confounding clinical presentation and different disease progression in CMT4B1
- Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
- Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
- Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
- NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
- The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies