Results 51 to 60 of about 8,752 (229)

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

Frontiers in Genetics, 2023
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar, Sergi Cesar, Sergi Cesar, Monica Coll, Monica Coll, Victoria Fiol, Victoria Fiol, Victoria Fiol, Anna Fernandez-Falgueras, Anna Fernandez-Falgueras, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Anna Iglesias, Anna Iglesias, Isaac Moll, Isaac Moll, Isaac Moll, Alexandra Perez-Serra, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Carles Ferrer-Costa, Bernat del Olmo, Bernat del Olmo, Marta Puigmulè, Marta Puigmulè, Marta Puigmulè, Mireia Alcalde, Mireia Alcalde, Laura Lopez, Laura Lopez, Ferran Pico, Ferran Pico, Rubén Berrueco, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Laura Carrera-García, Laura Carrera-García, Jessica Exposito-Escudero, Jessica Exposito-Escudero, Carlos Ortez, Carlos Ortez, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano   +68 more
doaj   +1 more source

Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations [PDF]

, 2004
[Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC,
Bouzas-Zubeldia, Beatriz, Castro-Beiras, Alfonso, Crespo-Leiro, María Generosa, Hermida-Prieto, Manuel, Laredo, Rafael, Monserrat, Lorenzo, Muñiz, Javier, Peteiro-Vázquez, Jesús, Rodríguez, Esther, Soler Fernández, Rafaela, Álvarez-García, Nemesio   +10 more
core   +2 more sources

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

BMC Medical Genetics, 2017
Background In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle ...
Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang   +8 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Distrofia muscular de Emery-Dreifuss: a propósito de um caso clínico

Revista Portuguesa de Cardiologia, 2012
Resumo: A distrofia muscular de Emery Dreifuss tipo 1 (DMED1) é uma doença familiar, com transmissão recessiva ligada ao X, resultante da mutação de uma proteína do invólucro nuclear, a emerina.
Fátima Saraiva, Dina Rodrigues, Helena Andrade, Luís Negrão, Lino Gonçalves, António Marinho, Luís A. Providência   +6 more
doaj   +1 more source

Mouse models of nesprin-related diseases [PDF]

, 2018
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope,
Akinrinade, Arsenovic, Attali, Baird, Banerjee, Baumann, Baye, Behrens, Can Zhou, Catherine M. Shanahan, Chen, Crisp, Derek T. Warren, Djinovic Carugo, Duong, Espigat-Georger, Fanin, Fridolfsson, Gimpel, González, Gough, Grady, Green, Gros-Louis, Guilluy, Haque, Haskell, Hockemeyer, Holt, Horn, Horn, Izumi, Johnson, Ketema, Ketema, Kosodo, Laquerriere, Lee, Lee, Li Rao, Lindeman, Luke, Mellad, Merrell, Mislow, Mitzner, Morgan, Morimoto, Neumann, Noreau, O'Roak, Olins, Ozaki, Puckelwartz, Puckelwartz, Qiuping Zhang, Rajgor, Rajgor, Razafsky, Razafsky, Razafsky, Razafsky, Razafsky, Rosenberg-Hasson, Roux, Shindo, Sosa, Sosa, Starr, Stierle, Stroud, Synofzik, Taniura, van Berlo, Voit, Warren, Warren, Wilhelmsen, Wilson, Winder, Wynshaw-Boris, Yang, Yu, Yu, Zhang, Zhang, Zhang, Zhang, Zhang, Zhang, Zhen, Zhong, Zhou, Zhou   +93 more
core   +1 more source

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.

International Heart Journal, 2019
Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins.
Shuai Wang, Daoquan Peng
semanticscholar   +1 more source

Whole-genome sequencing and the clinician: a tale of two cities [PDF]

, 2014
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley, Dickens, Dubowitz, F. Muntoni, Foley, Gualandi, J. He, J. Kim, Jöbsis, Jöbsis, Kim, Lupski, M. G. Hanna, Mercuri, Mercuri, Morrow, N. M. Pearson, Pace, Pan, Phimister, R. D. S. Pitceathly, Straub   +21 more
core   +2 more sources

Elevated TGF \u3b22 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes [PDF]

, 2018
Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders ...
Bernasconi, Pia, Biagini, Elena, Bonne, Gis\ue8le, Boriani, Giuseppe, Cappelletti, Cristina, Carboni, Nicola, Cavalcante, Paola, Columbaro, Marta, Evangelisti, Camilla, Lanzuolo, Chiara, Lattanzi, Giovanna, Maggi, Lorenzo, Mongini, Tiziana, Morandi, Lucia, Muchir, Antoine, Pegoraro, Elena, Politano, Luisa, Prencipe, Sabino, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sabatelli, Patrizia, Santoro, Lucio, Schena, Elisa, Siciliano, Gabriele, Vercelli, Liliana   +25 more
core   +6 more sources