Results 11 to 20 of about 8,751 (233)

Emery-Dreifuss muscular dystrophy [PDF]

European Journal of Human Genetics, 2002
Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and ...
Anne, Helbling-Leclerc, Gisèle, Bonne, Ketty, Schwartz   +2 more
openaire   +4 more sources

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

BMC Pediatrics, 2022
Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies.
Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai   +9 more
doaj   +2 more sources

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

EBioMedicine, 2020
Background: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes.
Peter Meinke, Alastair R.W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Charles R. Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer   +12 more
doaj   +3 more sources

Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype

Biomolecules, 2021
The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in ...
Gloria Pegoli, Marika Milan, Pierluigi Giuseppe Manti, Andrea Bianchi, Federica Lucini, Philina Santarelli, Claudia Bearzi, Roberto Rizzi, Chiara Lanzuolo   +8 more
doaj   +2 more sources

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
doaj   +2 more sources

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

Journal of Physiological Sciences, 2023
Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +2 more sources

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Cells, 2020
LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include roles in
A. Bertrand, A. Brull, F. Azibani, L. Benarroch, K. Chikhaoui, C. Stewart, O. Medalia, R. Ben Yaou, G. Bonne   +8 more
semanticscholar   +3 more sources

Clinical aspects of Emery-Dreifuss muscular dystrophy [PDF]

Nucleus, 2018
Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin ...
openaire   +4 more sources

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Cardiology Research and Practice, 2021
Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects.
Michał Marchel, Agnieszka Madej-Pilarczyk, Agata Tymińska, Roman Steckiewicz, Janusz Kochanowski, Julia Wysińska, Ewa Ostrowska, Paweł Balsam, Marcin Grabowski, Grzegorz Opolski   +9 more
doaj   +2 more sources

Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1

Stem Cell Research, 2021
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin.
Magdalena Machowska, Claudia Bearzi, Katarzyna Piekarowicz, Izabela Łaczmańska, Ryszard Rzepecki   +4 more
doaj   +2 more sources