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Genetic epidemiology of the Charcot-Marie-Tooth in the Spanish Gypsy population: the Hereditary Motor and Sensory Neuropathy type Russe in depth

Sevilla, T.; Martínez-Rubio, D.; Márquez, C.; Paradas, C.; Colomer, J.; Jaijo, T.; Millán, JM; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2013-06)

[EN] Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT ...
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4

Claramunt, R.; Sevilla, Teresa; Lupo,Vincenzo; Cuesta, A.; Millán, J.M.; Vilchez, Juan J.; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2007-04)

[EN] Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited ...

Mostrando ítems 1-2 de 2