Results 71 to 80 of about 10,549 (211)

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Molecular Therapy: Methods & Clinical Development, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos   +4 more
doaj   +1 more source

Limb girdle muscular dystrophy: reappraisal of a rejected entity

, 1994
The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness.
P.G. Barth, Barth, P. G., de Visser, M., A.J. van der Kooi, van der Kooi, A. J., M. de Visser   +5 more
core   +1 more source

Three case series involving progresive motor deficit [PDF]

Romanian Journal of Neurology, 2016
The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana, Alina Anghel, Iuliana Nicola-Antoniu, Ioan Buraga   +3 more
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
doaj   +1 more source

Ryanodine Receptor Ca2+ Leak‐Induced Redistribution of Ca2+ in Dystrophic mdx Mouse Muscle

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The dystrophic mdx mouse is a widely used model of Duchenne muscular dystrophy. Altered Ca2+ handling is a key feature, including increased Ca2+ leak through the ryanodine receptor (RyR1's), the primary Ca2+ release channel in skeletal muscle. Such leak has important downstream consequences for intracellular Ca2+ homeostasis.
Rhayanna B. Gaglianone, Cedric R. Lamboley, Taylor Dick, Aldo Meizoso‐Huesca, Daniel P. Singh, Bradley S. Launikonis   +5 more
wiley   +1 more source

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Frontiers in Genetics, 2020
Inositol polyphosphate-5-phosphatase K [INPP5K (MIM: 607875)] acts as a PIP3 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration.
Adele D’Amico, Adele D’Amico, Fabiana Fattori, Fabiana Fattori, Francesco Nicita, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini, Enrico Bertini   +17 more
doaj   +1 more source

Understanding Barriers to Participate in Specialized Neuromuscular Rehabilitation Experienced by People With Neuromuscular Diseases

Journal of Evaluation in Clinical Practice, Volume 32, Issue 4, June 2026.
ABSTRACT Rationale There are many types of neuromuscular diseases characterized by considerable variation in disease progression and functional abilities depending on the specific diagnosis, leading to an increased need for specialized rehabilitation across the lifespan.
Charlotte Handberg, Ulla Werlauff
wiley   +1 more source

Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)

Surgical and Experimental Pathology
Background Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Julio Salgado Antunes, Francineide Sadala de Souza, Heveline Becker de Moura, Andreia Portilho de Brito Pinto, Jaquelin Valicek, Monica Machado Navarro, Frederico Godinho, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Renata Lobo Giron, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Julia Filardi Paim   +21 more
doaj   +1 more source

Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen   +8 more
wiley   +1 more source