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A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
- Source :
-
Journal of neurology [J Neurol] 2004 Feb; Vol. 251 (2), pp. 222-3. - Publication Year :
- 2004
- Subjects :
- Adult
Chromosomes, Human, X genetics
DNA Mutational Analysis
Female
Hearing Loss, Sensorineural genetics
Hearing Loss, Sensorineural physiopathology
Humans
Male
Middle Aged
Mutation, Missense genetics
Neural Conduction genetics
Pedigree
Peripheral Nerves pathology
Peripheral Nerves physiopathology
Protein Structure, Tertiary genetics
Valine genetics
Gap Junction beta-1 Protein
Charcot-Marie-Tooth Disease genetics
Charcot-Marie-Tooth Disease physiopathology
Connexins genetics
Genetic Diseases, X-Linked genetics
Genetic Diseases, X-Linked physiopathology
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-5354
- Volume :
- 251
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 14991359
- Full Text :
- https://doi.org/10.1007/s00415-004-0284-8