Results 31 to 40 of about 8,751 (233)
Molecular Genetics & Genomic Medicine, 2023 Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly. The presence
Yanshu Xie +5 more
semanticscholar +1 more source
European Heart Journal: Case Reports, 2023 Background Heart disease is an under-recognized cause of morbidity and mortality in patients with Emery-Dreifuss muscular dystrophy (EDMD). Arrhythmias and conduction delays are highly prevalent and given the rarity of this disease the patient care ...
Niharika Kashyap +5 more
semanticscholar +1 more source
Frontiers in Neurology, 2023 Introduction Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (EYA4) gene, a transcription factor related to ...
A. Zambrano +10 more
semanticscholar +1 more source
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 +12 more
doaj +1 more source
Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]
, 2005 The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core +4 more sources
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 +5 more
doaj +1 more source
Cureus, 2023 Testicular germ cell tumor (GCT) is a rare disease, accounting for no more than 1.5% of all neoplasms in males, but represents the most common tumors in adolescents and young men in Western countries.
M. Angerer, C. Wülfing, K. Dieckmann
semanticscholar +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 +2 more
doaj +1 more source
Cytokines in Emery-Dreifuss muscular dystrophy: Possible pathogenetic markers and targets for treatment of disease [PDF]
, 2015 La distrofia muscolare di Emery-Dreifuss (EDMD) è una miopatia degenerativa ereditaria caratterizzata da debolezza e atrofia dei muscoli senza coinvolgimento del sistema nervoso.
Prencipe, Sabino <1985>
core +1 more source
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 +4 more
doaj +1 more source