Gerri distrofia muskularra Gipuzkoan

URTASUN, Miguel
; POZA, Juan José
; COBO, Ana María
; AZPITARTE, Margarita
; MARTÍ MASSÓ, José Félix
; SÁENZ, Amets
; LÓPEZ DE MUNAIN ARREGI, Adolfo

Publication year:

2006

Publication place:

Donostia-San Sebastián

ISSN:

1577-8533

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Summary

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.