Results 21 to 30 of about 8,752 (229)

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

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

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy [PDF]

Case Reports in Genetics, 2020
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li   +8 more
doaj   +2 more sources

Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model. [PDF]

Genes Dev, 2020
In this study, Harr et al. use C. elegans to investigate the consequences of a missense mutation (Y45C) in lamin A (encoded by LMNA) found in the human Emery-Dreifuss muscular dystrophy (EDMD) syndrome.
Harr JC, Schmid CD, Muñoz-Jiménez C, Romero-Bueno R, Kalck V, Gonzalez-Sandoval A, Hauer MH, Padeken J, Askjaer P, Mattout A, Gasser SM.   +10 more
europepmc   +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. [PDF]

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
Bertrand AT, Brull A, Azibani F, Benarroch L, Chikhaoui K, Stewart CL, Medalia O, Ben Yaou R, Bonne G.   +8 more
europepmc   +2 more sources

Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children. [PDF]

Front Cardiovasc Med, 2021
Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction.
Kovalchuk T, Yakovleva E, Fetisova S, Vershinina T, Lebedeva V, Lyubimtseva T, Lebedev D, Mitrofanova L, Ryzhkov A, Sokolnikova P, Fomicheva Y, Kozyreva A, Zhuk S, Smolina N, Zlotina A, Pervunina T, Kostareva A, Vasichkina E.   +17 more
europepmc   +2 more sources

Emery-Dreifuss muscular dystrophy

Current Neurology and Neuroscience Reports, 2007
Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin. Autosomally inherited EDMD is caused by mutations in LMNA, which encodes A-type nuclear lamins, intermediate filament proteins ...
Antoine, Muchir, Howard J, Worman
openaire   +3 more sources

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy [PDF]

Indian Journal of Radiology and Imaging
Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited syndrome that affects muscles, joints, and the heart. The classic clinical triad includes early joint contractures, slowly progressive muscle weakness, and cardiac abnormalities.
Basavaraj Biradar, Jineesh Valakkada, Anoop Ayyappan, Ajay Alex   +3 more
doaj   +2 more sources

Cardiac manifestations in Emery-Dreifuss muscular dystrophy. [PDF]

CMAJ, 2018
KEY POINTS A 35-year-old man with a known history of Emery–Dreifuss muscular dystrophy called emergency medical services (EMS) while at work one morning, reporting palpitations, lightheadedness, fatigue and a rapid heart rate.
Faiella W, Bessoudo R.
europepmc   +4 more sources

Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy [PDF]

Neurology International, 2018
Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure.
Abdallah Fayssoil
doaj   +2 more sources

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy [PDF]

Folia Neuropathologica, 2016
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk, Andrzej Kochański   +1 more
doaj   +3 more sources