Gerri distrofia muskularra Gipuzkoan
URTASUN, Miguel and POZA, Juan José and COBO, Ana María and AZPITARTE, Margarita and MARTÍ MASSÓ, José Félix and SÁENZ, Amets and LÓPEZ DE MUNAIN ARREGI, Adolfo (2006) Gerri distrofia muskularra Gipuzkoan. Osasunaz. Cuadernos de Ciencias Médicas (7). pp. 191-212. ISSN 1577-8533
Official URL: http://www.euskomedia.org/analitica/10795
Thanks to the advances that have taken place in molecular genetics, the concept of Limb-Girdle Muscular Dystrophy (LGMD) is rapidly changing. Various loci have been described and it has been proved that the Limb-Girdle Muscular Dystrophy syndrome is heterogeneous. We have carried out an epidemiological examination in Gipuzkoa and we have found the highest LGMD prevalence described up to the present: 69/106. The mutation in gen Kalpaina3 displayed by those affected shows similar clinical characteristics to those of other groups, which makes a precise clinical diagnosis possible.
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