1 X-linked Charcot-Marie-Tooth disease

An X-linked dominant form of Charcot-Marie-Tooth Disease that is characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental DEMYELINATION and remyelination with onion bulb formations on nerve biopsy. Mutations in the GJB1 gene have been identified.

Also Known As:

Charcot-Marie-Tooth disease, X-linked, 1; CMTX 1; Charcot-Marie-Tooth Neuropathy, X-Linked, 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; Cmtx1; HMSN, X-linked; Hereditary motor and sensory neuropathy, X-linked

Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        1 X-linked Charcot-Marie-Tooth disease: 42
- Neuromuscular Diseases: 2005
  - Peripheral Nervous System Diseases: 11383
    - Polyneuropathies: 5118
      - Hereditary Sensory and Motor Neuropathy: 249
        Charcot-Marie-Tooth Disease: 1019
        1 X-linked Charcot-Marie-Tooth disease: 42
- Nervous System Malformations: 35
  - Hereditary Sensory and Motor Neuropathy: 249
    - Charcot-Marie-Tooth Disease: 1019
      - 1 X-linked Charcot-Marie-Tooth disease: 42
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        1 X-linked Charcot-Marie-Tooth disease: 42
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        1 X-linked Charcot-Marie-Tooth disease: 42

Alice Maria Luderitz Hoefel Selected Research

Alice Maria Luderitz Hoefel Research Topics

Disease

Therapy/Procedure