A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of neurology 2004-02, Vol.251 (2), p.222-223
Hauptverfasser:	Karadima, Georgia, Panas, Marios, Floroskufi, Paraskewi, Kalfakis, Nikolaos, Vassilopoulos, Demetris
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - physiopathology Chromosomes, Human, X - genetics Connexins - genetics DNA Mutational Analysis Female Gap Junction beta-1 Protein Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - physiopathology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - physiopathology Humans Male Middle Aged Mutation - genetics Mutation, Missense - genetics Neural Conduction - genetics Pedigree Peripheral Nerves - pathology Peripheral Nerves - physiopathology Protein Structure, Tertiary - genetics Valine - genetics
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