Results 31 to 40 of about 258 (116)

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies. [PDF]

Muscle Nerve
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.
D'Este G, Spagna M, Federico S, Cacciante L, Cieślik B, Kiper P, Barresi R.   +6 more
europepmc   +2 more sources

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

Frontiers in Neuroscience, 2021
Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR ...
Anna Macias, Jakub Piotr Fichna, Malgorzata Topolewska, Maria J. Rȩdowicz, Anna M. Kaminska, Anna Kostera-Pruszczyk   +5 more
doaj   +1 more source

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls. [PDF]

Int J Mol Sci, 2023
Limb girdle muscular dystrophies (LGMDs) are a group of genetically inherited neuromuscular diseases with a very variable clinical presentation and overlapping traits.
Magri F, Napoli L, Ripolone M, Ciscato P, Moggio M, Corti S, Comi GP, Sciacco M, Zanotti S.   +8 more
europepmc   +2 more sources

Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1

Molecular Therapy: Methods & Clinical Development, 2021
Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene and CAPN3 loss of function, is known to play a role in disease pathogenicity.
Zarife Sahenk, Burcak Ozes, Darren Murrey, Morgan Myers, Kyle Moss, Mehmet E. Yalvac, Alicia Ridgley, Lei Chen, Jerry R. Mendell   +8 more
doaj   +1 more source

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
Limb-Girdle Muscular Dystrophies (LGMDs) are genetically heterogeneous disorders primarily affecting proximal limb muscles. The most common form, LGMDR1, results from biallelic CAPN3 mutations encoding calpain-3, a muscle-specific protease.
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +2 more sources

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees

, 2021
Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported frequently to cause LGMDR1. Here, we
Khan, T. N., Akram, Z., Khan, K., Faiz, B. Y., Harlalka, G. V., Ullah, M. I., Davis, E. E., Khan, R., Zhang, F., Mehmood, S., Chioza, B. A., Jameel, M., Siddiqui, M., Ahmad, A., Satti, H. S., Hassan, M. J., Liu, C., Baple, E. A., Akram, T., Baig, S. M., Crosby, A. H.   +20 more
core   +2 more sources

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb‐Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

Human Mutation, Volume 2023, Issue 1, 2023., 2023
The sarcoglycanopathies are autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is characterized by progressive proximal muscle weakness with childhood onset.
V. Manjunath, S. G. Thenral, B. R. Lakshmi, Atchayaram Nalini, A. Bassi, K. Priya Karthikeyan, K. Piyusha, R. Menon, A. Malhotra, L. S. Praveena, R. M. Anjanappa, S. M. Sakthivel Murugan, Kiran Polavarapu, Mainak Bardhan, V. Preethish-Kumar, Seena Vengalil, Saraswati Nashi, S. Sanga, M. Acharya, R. Raju, V. R. Pai, V. L. Ramprasad, R. Gupta, William Oetting   +23 more
wiley   +1 more source

Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study

Neuromuscular Disorders
Stephanie M. Hunn, Andrew R. Findlay, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R.H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson   +29 more
exaly   +2 more sources

Fractures in Hereditary Neuromuscular Disorders: Frequency, Risk Factors, and Implications. [PDF]

Eur J Neurol
ABSTRACT Background Hereditary neuromuscular disorders (NMD) are associated with compromised bone health and elevated fracture risk, though data are largely lacking. Objective This study aimed to assess the prevalence and risk factors of fractures in hereditary NMD.
Opsomer M, Iterbeke L, Borghs H, De Cuyper T, Dejaeger M, Dupont P, Claeys KG.   +6 more
europepmc   +2 more sources

Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T2 in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases

NMR in Biomedicine, Volume 35, Issue 12, December 2022., 2022
Quantification errors can occur when a simple mean or median value analysis of the MR biomarker water T2 (T2w) is performed. Because of the two opposite effects that influence T2w in a single voxel—(i) a pathophysiologically increased water mobility (e.g., in edematous changes) leading to T2w elevation, and (ii) a dependency of T2w on the proton ...
Sarah Schlaeger, Dominik Weidlich, Agnes Zoffl, Edoardo Aitala Becherucci, Elisabeth Kottmaier, Federica Montagnese, Marcus Deschauer, Benedikt Schoser, Claus Zimmer, Thomas Baum, Dimitrios C. Karampinos, Jan S. Kirschke   +11 more
wiley   +1 more source