Results 51 to 60 of about 258 (116)
, 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 ...
Maria J. Rȩdowicz (11561248) +5 more
core +1 more source
European Journal of Neurology, Volume 32, Issue 9, September 2025.LGMD D3 in Uruguay presents as a slowly progressive adult‐onset scapulo‐pelvic‐peroneal dystrophy. Pathogenic variant c.1132G>C p.(Asp378His) was confirmed in all participants. This is the largest LGMD D3 cluster and first report of sex‐dependent age of onset.
Elisa Demicheli +10 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels. [PDF]
Mol Syndromol, 2023 Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD. ...
Sarıkaya Uzan G +6 more
europepmc +2 more sources
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
, 2022 Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A.
Ozyilmaz, Berk +6 more
core +1 more source
Inherited myopathies in patients from Sub-Saharan Africa: results from a retrospective cohort
, 2022 © 2022 Elsevier Ltd. All rights reserved.The clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown but likely underdiagnosed due to problems of scientific research and social issues. We report a case series of patients born
Oliveira, Renato +5 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan +3 more
wiley +1 more source
, 2023 245 p.La distrofia muscular de cinturas R1 asociada a calpaína 3 (LGMDR1) o calpainopatía, es una distrofia muscular con herencia autosómico recesiva causada por mutaciones del gen CAPN3. El presente trabajo de investigación profundiza en el conocimiento
Rico Castro, Anabel
core
, 2023 Additional file 4: Table S1. Fold-change values of the gene expression analysis in tissue and cells in culture. Shaded in green downregulated genes and shaded in red upregulated genes. *Results previously published by our group [42].
Oihane Jaka (10793664) +8 more
core +1 more source
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Annals of Clinical and Translational Neurology, Volume 11, Issue 9, Page 2268-2276, September 2024.Abstract Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy.
Shruthi Mohan +29 more
wiley +1 more source