A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features
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| Veröffentlicht in: | Journal of neurology 2004-02, Vol.251 (2), p.222-223 |
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| container_end_page | 223 |
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| container_issue | 2 |
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| container_title | Journal of neurology |
| container_volume | 251 |
| creator | Karadima, Georgia Panas, Marios Floroskufi, Paraskewi Kalfakis, Nikolaos Vassilopoulos, Demetris |
| description | |
| doi_str_mv | 10.1007/s00415-004-0284-8 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0340-5354 |
| ispartof | Journal of neurology, 2004-02, Vol.251 (2), p.222-223 |
| issn | 0340-5354 1432-1459 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | 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 |
| title | A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features |
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