Results 21 to 30 of about 4,510 (163)

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

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   +1 more source

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   +1 more source

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   +1 more source

Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology

Stem Cell Research, 2021
LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope.
Ji-Zhen Lu, Zhi-Bin Qiao, Lu Zhang, Hong-Xia Cao, Zhi-Hui Bai, Yi-Yao Qi, Han-Yu Zhu, Ya-Qi Chen, Shou-Mei Zhang, Xiu-Hua Yan, Yan Bao, Wen-Wen Jia, Zhong-Min Liu   +12 more
doaj   +1 more source

Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy

JACC: Case Reports, 2020
A 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic ...
M. Scott Binder, MD, Emily Brown, MGC, CGC, Thomas Aversano, MD, Kathryn R. Wagner, MD, PhD, Hugh Calkins, MD, Andreas S. Barth, MD, PhD   +5 more
doaj   +1 more source

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Suhl J, Conway KM, Thomas S, Rasmussen SA, Howard JF, Johnson NE, Romitti PA, Mathews KD, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet).   +9 more
europepmc   +2 more sources

An Omics View of Emery–Dreifuss Muscular Dystrophy [PDF]

Journal of Personalized Medicine, 2020
Recent progress in Omics technologies has started to empower personalized healthcare development at a thorough biomolecular level. Omics have subsidized medical breakthroughs that have started to enter clinical proceedings. The use of this scientific know-how has surfaced as a way to provide a more far-reaching view of the biological mechanisms behind ...
Vignier, Nicolas, Muchir, Antoine
openaire   +3 more sources

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Folia Neuropathologica, 2017
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined.
Irena Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel, Irena Hausmanowa-Petrusewicz   +4 more
doaj   +1 more source

Systemic Botulism Toxicity Caused by Pyloric Botox Injection to Treat Gastroparesis

Case Reports in Gastroenterology, 2020
Systemic botulism resulting from therapeutic Botox (OnabotulinumtoxinA) injection has been rarely reported, and never in the context of pylorus injection to treat gastroparesis.
Gordon P. Bensen, Cristina C. Rutherford, Timothy B. Gardner   +2 more
doaj   +1 more source

Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report

Arquivos de Neuro-Psiquiatria, 2006
A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras ...
Ana Lucila Moreira Carsten, Paulo José Lorenzoni, Rosana Herminia Scola, Lineu César Werneck   +3 more
doaj   +1 more source