RESUMEN

Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the gene for connexin 32 protein (Cx32, GJB1). The contribution of HMSN 1X to the structure of HMSN in the Republic of Bashkortostan was determined. The GJB1 mutations were detected in 18 out of 131 unrelated patients, which constituted 13.7%. The four missense mutations identified were represented by: Pro87Ala (c.259C>G) with the frequency of 10%; Arg22Gln (c.65G>A) (2.98%); Arg15Gln (c.44G>A); and Thr86Ile (c.257C

Asunto(s)

Sustitución de Aminoácidos , Enfermedad de Charcot-Marie-Tooth/genética , Conexinas/genética , Desequilibrio de Ligamiento , Mutación Missense , Polimorfismo Genético , Alelos , Baskiria/etnología , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/etnología , Femenino , Efecto Fundador , Humanos , Masculino , Repeticiones de Microsatélite/genética , Sitios de Carácter Cuantitativo/genética , Proteína beta1 de Unión Comunicante