Results 51 to 60 of about 2,278 (204)

The spectrum of congenital myopathies in Romania – a pathological retrospective study [PDF]

Romanian Journal of Neurology, 2015
Objectives. Congenital myopathies (CM) are a highly heterogeneous group of disorders with genetic cause, characterized by motor deficit and weakness usually manifesting in the neonatal period, with slowly progressive or non-progressive course and ...
Alexandra Eugenia Bastian, Vlad Mageriu, Emilia Manole   +2 more
doaj   +1 more source

The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization [PDF]

, 2012
The sliding filament model of the sarcomere was developed more than half a century ago. This model, consisting only of thin and thick filaments, has been successful in explaining many, but not all, features of skeletal muscle.
Coen eOttenheijm, Coen eOttenheijm, Henk eGranzier, Siegfried eLabeit   +3 more
core   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]

, 2020
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran, Glamuzina, Emma, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Kornblum, Cornelia, Oldfors, Anders, Roach, Peter, Sandstedt, Joakim, Tasca, Giorgio, Thomsen, Christer, Visuttijai, Kittichate   +10 more
core   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Frontiers in Neurology, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +1 more source

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

eLife, 2023
Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy.
Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta   +17 more
doaj   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.

PLoS ONE, 2022
The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection ...
Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski   +4 more
doaj   +1 more source