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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (Articolo in rivista)

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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (Articolo in rivista) (literal)

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Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. (2000)
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
in American journal of human genetics; University of Chicago Press, Chicago (Stati Uniti d'America)
(literal)

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Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. (literal)

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Institute of Genetics Biochemistry and Evolution-Consiglio Nazionale delle Ricerche, Pavia, Italy; Institute of Neurology, Catholic University, Rome; Centre for Neuromuscular Diseases, UILDM-Rome Section, Rome; Institute of Cell Biology-CNR, Rome; Istituto Neurologico Besta, Milan; Legnano Hospital, Legnano, Italy; Department of Pediatrics, University of Essen, Essen, Germany; Department of Medical Genetics, Ulleval Hospital, Oslo; Rizzoli Institute, Bologna; Department of Clinical Neurology, University of Padova, Padova, Italy; Medical Research Center, Polish Academy of Science, Warsaw; INSERM UR153 and Institut de Myologie, GH Pitié-Salpétrière, Paris; Service de Genetique, Strasbourg University Medical School, Strasbourg, France (literal)

Titolo

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (literal)

Abstract

Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified. We report here that heterozygote mutations in LMNA, the gene for AD-EMD, may cause diverse phenotypes ranging from typical EMD to no phenotypic effect. Our results show that LMNA mutations are also responsible for the recessive form of the disease. Our results give further support to the notion that different genetic forms of EMD have a common pathophysiological background. The distribution of the mutations in AD-EMD patients (in the tail and in the 2A rod domain) suggests that unique interactions between lamin A/C and other nuclear components exist that have an important role in cardiac and skeletal muscle function. (literal)

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