Results 81 to 90 of about 607 (153)

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy

Muscle &Nerve, Volume 69, Issue 4, Page 472-476, April 2024.
Abstract Introduction/Aims Limb‐girdle muscular dystrophy R1 (LGMDR1) calpain 3‐related usually presents as a recessively transmitted weakness of proximal limb‐girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4)
Andrea Valls, Gerardo Gutiérrez‐Gutiérrez, Agustín Martínez, Cristina Ruiz‐Roldán, Pilar Camaño, Adolfo López de Munain, Amets Sáenz   +6 more
wiley   +1 more source

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis

Skeletal Muscle, 2017
Background Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle.
Mehmet E. Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A. Hussain, Kimberly M. Shontz, Chrystal L. Montgomery, Kevin M. Flanigan, Sarah Lewis, Zarife Sahenk   +9 more
doaj   +1 more source

The role of magnetic resonance imaging in diagnosing limb-girdle muscular dystrophy: a descriptive exploratory diagnostic study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited neuromuscular disorders characterized by progressive weakness of the pelvic and shoulder girdle muscles.
Sara Mohamed Ihab, Khaled Abou Alfotouh Ahmed, Nagia Ali Fahmy, Samia Ashour Helal, Doaa Abdallah Elaidy   +4 more
doaj   +1 more source

Function and muscle strength in Brazilian patients with calpainopathy

, 2019
Contextualização - A distrofia muscular de cinturas tipo 2A ou calpainopatia é uma desordem causada pelas mutações no gene CAPN3 (15q15.1) que codifica a calpaína.
Marim, Jéssica Gomes
core   +1 more source

Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization

Arquivos de Neuro-Psiquiatria, 2014
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
doaj   +1 more source

Refining the molecular characterization of calpainopathy (LGMD2A) patients

, 2011
Introduction: Mutations in the gene CAPN3 are responsible for calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A), one of the most frequent forms of LGMD.
Maia, Nuno, Vieira, Emília, Oliveira, Márcia E., Santos, Rosário   +3 more
core  

Calpainopathy presenting as foot drop in a 41 year old

Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most
Bushby K, Barresi R, Hammans SR, Hillier C, Burke G, Cole J, Sampson M, Bridges L   +7 more
core  

Наследственная прогрессирующая конечностно-поясная мышечная дистрофия 2А типа (кальпаинопатия): обзор литературы

, 2015
The Russian literature gives inadequate attention to the problem of one of the most common form of autosomal recessive progressive limb-girdle muscular dystrophies type 2A (LGMD2A) (calpainopathy). This paper highlights current views on the physiological
A. V. Belopasova, D. A. Grishina, Н. А. Супонева, Д. А. Гришина, В. В. Шведков, N. A. Suponeva, V. V. Shvedkov, А. В. Белопасова   +7 more
core   +1 more source

UvA-DARE (Digital Academic Repository) Link to publication Citation for published version (APA): Calpainopathy-A Survey of Mutations and Polymorphisms

, 1999
General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content ...
C Pollitt, E Bakker, J E M A Anderson, H B Ginjaar, K Bushby, H Topaloglu, Grimbergen R Pogue, P Gallano, J S Beckmann, L V B Anderson, B Eymard, A Van Der Kooi, R Pogue, C Roudaut, A Saenz, M De Visser, C Beley, C De Diego, A Lasa, M Fardeau, J E M A Grimbergen, A-M Cobo, A Lopez De Munain, I Richard, L V B Beckmann, J S, J A Urtizberea   +26 more
core  

Image_1_Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.TIF

, 2019
The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify new
Serenella Servidei (6370040), Valerio Caputo (6834998), Claudia Strafella (3568985), Giulia Campoli (6834992), Julia Mela (6835010), Emiliano Giardina (424007), Giulia Pagliaroli (6835001), Cristina Peconi (6835007), Raffaella Cascella (424002), Guido Primiano (6370025), Giulietta Minozzi (179776), Rosaria Maria Galota (6834995), Stefania Carboni (6835004), Stefania Zampatti (424001), Cristina Sancricca (6370037)   +14 more
core   +1 more source