[The laminopathy saga].

Abstract excerpt

AIMS: Our aim was to clinically characterise Emery-Dreifuss muscular dystrophy, to differentiate the X-linked forms of inheritance from the forms involving autosomal dominant inheritance, from a genetic point of view, and to describe the phenotypical heterogeneity of mutations in the LMNA gene itself. DEVELOPMENT: We describe the identification of the mutations in the lamina A/C gene, the LMNA gene, which was...

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