Title: | Missense mutation (R15W) of the connexin 32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected |
Journal : | Journal of neurology, neurosurgery and psychiatry, 63 |
Authors: | Wicklein EM ; Orth U ; Gal A ; Kunze K |
Material Type: | Article |
Publication Date: | 1997 |
Size: | p. 379-381 |
Languages: | English |
Keywords : | adulthood ; case studies ; Charcot-Marie-Tooth disease ; differential diagnosis ; familial disease ; family trees ; female ; gene localization ; genetic mutations ; human ; X-linked inheritance |