Results 81 to 90 of about 2,671 (159)

Семейство с Калпаин 3 свързана пояс-крайник мускулна дистрофия с атипично протичане, дължаща се на нова мутация

Българска неврология, 2022
Калпаин 3 (CAPN3) свързаната прогресивна мускулна дистрофия тип пояс-крайник (ПКМД) R1/2A e най-често срещаната форма от всички ПКМД в световен мащаб.
Ani Taneva, T. Chamova, A. Todorova, T. Todorov, M. Gospodinova, D. Zlatareva, M. Krupev, I. Tournev   +7 more
doaj  

From Variant Interpretation to Biomarker Translation: Multi‐omics Integration in Inherited Neuromuscular Diseases

Human Mutation, Volume 2026, Issue 1, 2026.
Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi‐omics technologies has broadened biomarker discovery from single genomics to multidimensional integrative analyses encompassing ...
Suming Zhang, Xiaoling Lang, Lunxin Liu, Hao Chi   +3 more
wiley   +1 more source

Female Anterior Cruciate Ligaments Exhibit a Muted Mechanobiological Response to Mechanical Loading

Journal of Orthopaedic Research, Volume 43, Issue 12, Page 2188-2202, December 2025.
ABSTRACT Female athletes are significantly more likely to tear their anterior cruciate ligament (ACL) compared to their male counterparts. While there are several potential reasons for this, previous data from our lab demonstrated that female ACL explants have an impaired remodeling response to loading, which may prevent the repair of fatigue damage ...
Lauren Paschall, Maxwell Konnaris, Erdem Tabdanov, Aman Dhawan, Spencer E. Szczesny   +4 more
wiley   +1 more source

Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan

Pediatrics and Neonatology, 2015
The autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles.
Chien-Hua Wang, Wen-Chen Liang, Narihiro Minami, Ichizo Nishino, Yuh-Jyh Jong   +4 more
doaj   +1 more source

Limb-girdle muscular dystrophy type 2A in Brazilian children

Arquivos de Neuro-Psiquiatria, 2015
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI ...
Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed   +4 more
doaj   +1 more source

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Egyptian Journal of Medical Human Genetics
Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya, Alejandro Martínez-Herrera, Oscar Mancera-Páez, Alberto Hidalgo-Bravo, María R. Rivera-Vega   +4 more
doaj   +1 more source

Variation at the Calpain 3 gene is associated with meat tenderness in zebu and composite breeds of cattle

BMC Genetics, 2008
Background Quantitative Trait Loci (QTL) affecting meat tenderness have been reported on Bovine chromosome 10. Here we examine variation at the Calpain 3 (CAPN3) gene in cattle, a gene located within the confidence interval of the QTL, and which is a ...
Bunch Rowan J, Harrison Blair E, Barendse William, Thomas Merle B   +3 more
doaj   +1 more source

Bidirectional transcriptional activity of the Pgk1 promoter and transmission ratio distortion in Capn3-deficient mice

Genomics, 2004
A calpain 3 (Capn3) deficiency model was created by targeted disruption of the mouse Capn3 gene through homologous recombination in ES cells. Analysis of the genotype of pups from heterozygous crosses revealed a transmission ratio distortion (TRD) in favor of homozygous Capn3-deficient mice.
Mathieu, Taveau, Daniel, Stockholm, Sylvie, Marchand, Carinne, Roudaut, Marc, Le Bert, Isabelle, Richard   +5 more
openaire   +2 more sources

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy [PDF]

Annals of Clinical and Translational Neurology, 2020
Mathieu Cerino, Marc Bartoli, Florence Riccardi, Brigitte Le Goanvic, Véronique Blanck, Alexandra Salvi, Nicolas Lévy, Martin Krahn, Ariane Choumert   +8 more
openaire   +2 more sources

Molecular Genetic Analysis of Limb Girdle Muscular Dystrophy 2A (LGMD2A) in two consanguineous Pakistani families

Khyber Medical University Journal, 2016
Objectives: To investigate molecular pathogenesis of the disease and to significantly improve diagnosis and understanding of muscular dystrophy in Pakistani population.
Muhammad Jaseem Khan
doaj