Results 31 to 40 of about 283,904 (171)
The Turkish Journal of Pediatrics, 2020 Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases.
Hande Tekin +4 more
doaj +1 more source
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy [PDF]
Cardiology Journal, 2020 Andrzej Kułach +5 more
doaj +2 more sources
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
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
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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
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Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]
, 2011 Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core +1 more source
X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers [PDF]
Genes, 2019 Emanuela Viggiano, Gerardo Nigro
exaly +2 more sources
PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation
Cells, 2020 Lamin A/C has been implicated in the epigenetic regulation of muscle gene expression through dynamic interaction with chromatin domains and epigenetic enzymes. We previously showed that lamin A/C interacts with histone deacetylase 2 (HDAC2).
Spartaco Santi +4 more
doaj +1 more source
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 +68 more
doaj +1 more source
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 +8 more
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