Results 51 to 60 of about 841 (164)

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). [PDF]

, 2020
BACKGROUND Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide.
Diaz-Manera, Jordi, Bello L, Pegoraro E., Laforet, Pascal, Vissing J, Bello L., Lokken N, Laforet P, Semplicini, Claudio, Lokken N., Barp A, Urtizberea JA, Urtizberea J. A., Marini-Bettolo, Chiara, Straub V, Diaz-Manera J, Marini-Bettolo C., Monforte M, Stramare R., Tasca G, Carlier, Robert Y, Malfatti E., Scheidegger O., Choumert A., Mercuri, Eugenio, Ricci E., Haberlova J., Semplicini C, Kynčl, Martin, Stramare, Roberto, Pegoraro E, Haberlova J, Løkken, Nicoline, Stojkovic T., Scheidegger, Olivier, Choumert A, Mercuri E, Stojkovic, Tanya, Diaz-Manera J., Walter M. C., Stramare R, Tasca, Giorgio, Laforet P., Scheidegger, Oliver, Scheidegger O, Malfatti, Edoardo, Choumert, Ariane, Ricci, Enzo, Semplicini C., Kyncl M., Kyncl M, Walter MC, Vissing, John, Mercuri E., Malfatti E, Carlier R. Y., Barp A., Straub, Volker, Vissing J., Stojkovic T, Monforte, Mauro, Walter, Maggie C, Barp, Andrea, Urtizberea, Jon A, Marini-Bettolo C, Pegoraro, Elena, Carlier RY, Straub V., Bello, Luca, Ricci E, Haberlova, Jana, Monforte M., Tasca G.   +72 more
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

Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled related protein
Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories, Amets Sáenz   +8 more
doaj   +1 more source

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis [PDF]

European Journal of Human Genetics, 2012
We studied and validated facioscapulohumeral muscular dystrophy (FSHD) samples from patients without a D4Z4 contraction (FSHD2 or 'phenotypic FSHD'). For this, we developed non-radioactive protocols to test D4Z4 allele constitution and DNA methylation, and applied these to samples from the Coriell Institute Cell Repository.
Andreas, Leidenroth, Hanne Sørmo, Sorte, Gregor, Gilfillan, Melanie, Ehrlich, Robert, Lyle, Jane E, Hewitt   +5 more
openaire   +2 more sources

The role of Calpain 3 and Titin relationship in the Ethiopatogenesis of limb girdle muscular dystrophy type 2A (LGMD2A)

, 2007
Disertacija je bila usmjerena prema boljem razumijevanju funkcije kalpaina 3, posebice uloge odnosa kalpaina 3 i titina u etiopatogenezi pojasne mišićne distrofije tip 2A (LGMD2A).
Milić, Astrid
core   +2 more sources

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

Acta Neuropathologica Communications, 2017
Summary Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties.
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O. Fürst, Matthias Vorgerd, Wolfgang A. Linke   +9 more
doaj   +1 more source

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

Annals of Clinical and Translational Neurology, Volume 6, Issue 11, Page 2328-2333, November 2019., 2019
Abstract CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable.
Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano   +8 more
wiley   +1 more source

Limb‐girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies

Muscle &Nerve, Volume 71, Issue 2, Page 138-146, February 2025.
Abstract Limb‐girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious.
Giorgia D'Este, Mattia Spagna, Sara Federico, Luisa Cacciante, Błażej Cieślik, Pawel Kiper, Rita Barresi   +6 more
wiley   +1 more source

Killing Two Angry Birds with One Stone: Autophagy Activation by Inhibiting Calpains in Neurodegenerative Diseases and Beyond

BioMed Research International, Volume 2019, Issue 1, 2019., 2019
Proteolytic machineries execute vital cellular functions and their disturbances are implicated in diverse medical conditions, including neurodegenerative diseases. Interestingly, calpains, a class of Ca2+‐dependent regulatory proteases, can modulate the degradational system of autophagy by cleaving proteins involved in this pathway.
Jonasz Jeremiasz Weber, Priscila Pereira Sena, Elisabeth Singer, Huu Phuc Nguyen, Gessica Sala   +4 more
wiley   +1 more source