Results 81 to 90 of about 2,650 (160)

Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT A novel RYR1 mutation (c.C5701T:p.Q1901X) was identified in a 51‐year‐old female presenting with acute respiratory failure as the primary manifestation of congenital myopathy. This case expands the genotype–phenotype spectrum of RYR1‐related myopathies and demonstrates that multidisciplinary intervention—including ventilator support ...
Chenliang Zhao, Yongxiang Li, Jinhui Li, Jianrong Xiong   +3 more
wiley   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy

IUBMB Life, Volume 77, Issue 10, October 2025.
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti   +7 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

Analysis of Population Structure and Selection Signatures in Two Iraqi Fat‐Tailed Sheep Breeds

Veterinary Medicine and Science, Volume 11, Issue 5, September 2025.
Awassi sheep exhibit clear genetic separation, whereas Hamdani sheep show an admixed profile, with iHS, ROH and Tajima's D analyses identifying breed‐specific candidate genes. Enrichment in immune response, hormone regulation and cellular signalling pathways highlights adaptive evolution and guides future breeding and conservation.
Mervan Bayraktar, Omer Shoshin, K. A. Saravanan, Tahreer M. Al‐Thuwaini, Gökhan Gökçe, Zeynab Hussein Fadhil, Melis Çelik Güney   +6 more
wiley   +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

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

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

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

Frontiers in Neurology, 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
Claudia Strafella, Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Raffaella Cascella, Emiliano Giardina, Emiliano Giardina   +19 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