Results 11 to 20 of about 3,999 (130)

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
ABSTRACT Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X‐linked (XL).
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +3 more sources

Structural and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy [PDF]

, 2022
Abstract Mutations in skeletal muscle α-actin (Acta1) cause a variety of myopathies. In a mouse model of congenital myopathy, heterozygous Acta1 (H40Y) knock-in ( Acta1 + /Ki ) mice exhibit features of ...
Yun Liu, Weichun Lin
openaire   +1 more source

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands [PDF]

Neuromuscular Disorders, 2011
This international ENMC workshop assembled 18 clinicians and scientists from Europe, the United States of America, South America, Japan and Australia to discuss “Rare Structural Congenital Myopathies (CM)”. This workshop can be considered a follow-up to an earlier one [1], then and now excluding classical CM on which separate workshops have repeatedly ...
Goebel HH, Bönnemann CG, Rare Structural Myopathy Consortium (Bertini E, Bonnemann CG, Boersen A, Clarke N, Goebel HH, Figarella Branger D, Hubner A, Holton JL, Kirshner J, Lammens M, Moore S, Nonaka I, Olive’ M, PEGORARO, ELENA, Polvikoski T, Schessl J, Sewry C, Taratuto AL   +19 more
openaire   +4 more sources

Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2) [PDF]

Archives of Neurology, 2007
To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness.
Homa, Tajsharghi, Monica, Ohlsson, Christopher, Lindberg, Anders, Oldfors   +3 more
openaire   +2 more sources

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source

Fine-tuning striated muscle performance: conserved sarcomere-level mechanisms across insect and vertebrate systems

Frontiers in Physiology
Striated muscles exhibit remarkable structural and functional specialization that enables precise control of force production, contractile kinetics, and energetic efficiency. Although vertebrate skeletal and cardiac muscles have been extensively studied,
Hiroyoshi Matsui, Zach Chbihi, Rima Mashni, Haidar Hachem, Sarah Snider, Sarah Snider, Alyson Sujkowski, Alyson Sujkowski   +7 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
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, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

Acta Neuropathologica Communications
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options.
Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero   +15 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source