Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth

Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth

瀏覽:1377
日期:2024-04-24
Severity: General Many mutations produce same disease severity as GJB1 deletions? Related to degree of protein function lost No clear relation with ability of Cx32 mutants to form functional channels Mild phenotype: Rare Point mutations: Missense (e.g. Va...看更多