G2Cdb::Human Disease Report


Disease id D00000205
Name Charcot-Marie-Tooth disease type 1A
Nervous system disease Yes
Genes
G00001806 (PLP1) proteolipid protein 1 (Pe
Literature
(1 items)
human disease
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.
Gabreëls-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreëls FJ
Acta Neuropathol. 1995;90;645-9. PMID: 8615087