Results 121 to 130 of about 924,459 (214)
A Rare Case of Severe Congenital RYR1-Associated Myopathy
Case Reports in Genetics, 2018 Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity ...
N. Laforgia +8 more
semanticscholar +1 more source
Voice Fundamental Frequency Variation and Statin Therapy
Clinical Otolaryngology, EarlyView.ABSTRACT Objectives Statins are considered a first‐line treatment for dyslipidaemia, being the most frequently prescribed medicine worldwide. However, statin therapy has been associated with several adverse effects, including statin‐associated myopathy, which may manifest with symptoms such as myalgia, muscle stiffness, and cramps.
Luca Francesco Parata +5 more
wiley +1 more source
Congenital myopathy is caused by mutation of HACD1
Human Molecular Genetics, 2013 Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy.
Emad Muhammad +11 more
semanticscholar +1 more source
European Journal of Haematology, EarlyView.ABSTRACT Eosinophilia, defined as an absolute eosinophil count (AEC) of ≥ 0.5 × 109/L, is a frequently encountered finding with a vast spectrum of potential underlying etiologies. Hypereosinophilia (HE) is defined as AEC > 1.5 × 109/L and may become life‐threatening when eosinophil‐induced organ damage occurs, defining the hypereosinophilic syndrome ...
Stijn Wigerinck, Peter Vandenberghe
wiley +1 more source
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy
Bioscience Reports, 2013 CD (cathepsin D) is a ubiquitous lysosomal hydrolase involved in a variety of pathophysiological functions, including protein turnover, activation of pro-hormones, cell death and embryo development.
Carlo Follo +4 more
semanticscholar +1 more source
BMC Pulmonary MedicineBackground Patients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and respiratory failure.
Yinong Chen +5 more
doaj +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Doenças musculares no hipertiroidismo.
Acta Médica Portuguesa, 1995 Hyperthyroidism may present various muscular diseases, namely thyrotoxic chronic myopathy, myasthenia gravis, disthyroid ophthalmopathy and thyrotoxic periodic paralysis.
F Pissarra +5 more
doaj +1 more source
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source