Results 61 to 70 of about 3,537,976 (165)
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, EarlyView.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
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
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Congenital Muscular Dystrophies and Myopathies: An Overview and Update
, 2017 With continuous deciphering of the genetic background of congenital muscular dystrophies and congenital myopathies, some of the historic classifications based on clinical phenotypes or histopathological similarities have become blurred.
Carsten Bönnemann +5 more
core +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile +20 more
wiley +1 more source
Myopathology of Congenital Myopathies: Bridging the Old and the New [PDF]
, 2019 Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia and muscle weakness, a relatively static or slowly progressive disease course, and originally ...
Phadke, R
core +1 more source
What's new in neuromuscular disorders? The congenital myopathies
, 2003 The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular ...
Sewry, C A +2 more
core +1 more source
Muscle &Nerve, Volume 74, Issue 4, Page 1281-1287, October 2026.ABSTRACT Introduction/Aims Quantitative muscle ultrasound (QMUS) is a validated technique for assessing muscle pathology, yet its role in disorders primarily affecting the neuromuscular junction (NMJ) remains unclear. This pilot study aimed to explore whether QMUS is associated with structural muscle changes in patients with acquired or genetic NMJ ...
Artor Pogosean +3 more
wiley +1 more source
Preserved Statistical Learning of Tonal and Linguistic Material in Congenital Amusia [PDF]
, 2011 Congenital amusia is a lifelong disorder whereby individuals have pervasive difficulties in perceiving and producing music. In contrast, typical individuals display a sophisticated understanding of musical structure, even in the absence of musical ...
Stewart, Lauren +9 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source