Article
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Neurology - 29 May 2007
Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim K E, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G
Abstract excerpt
BACKGROUND: Mutations in the EMD and LMNA genes, encoding emerin and lamins A and C, are responsible for the X-linked and autosomal dominant and recessive forms of Emery-Dreifuss muscular dystrophy (EDMD). LMNA mutations can also lead to several other disorders, collectively termed laminopathies, involving heart, fat, nerve, bone, and skin tissues, and some premature ageing syndromes. METHODS: Fourteen members of...
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