Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. Issue 4 (1st April 2005)

• Record Type: Journal Article
• Authors: Claramunt, R; Pedrola, L; Sevilla, T; López de Munain, A; Berciano, J; Cuesta, A; Sánchez-Navarro, B; Millán, J M; Saifi, G M; Lupski, J R; Vílchez, J J; Espinós, C; Palau, F
• Is Part Of: Journal of medical genetics. Volume 42:Issue 4(2005)
• Page Start: 358
• Page End: 365
• Publication Date: 2005-04-01
• Subjects: CHN, congenital hypomyelinating neuropathy -- CMAP, compound motor action potential -- CMT disease, Charcot-Marie-Tooth disease -- DSN, Déjérine-Sottas neuropathy -- NCVs, nerve conduction velocities -- SNAP, sensory nerve action potential; Charcot-Marie-Tooth disease type 4A -- founder effect -- GDAP1 gene -- Mendelian inheritance variability; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.022178
• Languages: English
• ISSNs: 1468-6244