Results 11 to 20 of about 258 (116)

Quantitative muscle magnetic resonance imaging in limb‐girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study [PDF]

NMR in Biomedicine
Limb‐girdle muscular dystrophy (LGMD) type R1 (LGMDR1) is the most common subtype of LGMD in Europe. Prospective longitudinal data, including clinical assessments and new biomarkers such as quantitative magnetic resonance imaging (qMRI), are needed to evaluate the natural course of the disease and therapeutic options. We evaluated eight thigh and seven
Johannes Forsting, Martijn Froeling, Lara Schlaffke   +2 more
exaly   +7 more sources

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

Journal of Neurology, 2019
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. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns ...
Andrea Barp, Pascal Laforêt, Luca Bello   +2 more
exaly   +8 more sources

CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells

Stem Cells International, 2023
Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A/LGMDR1) with selective atrophy of the proximal limb muscles.
Lampros Mavrommatis, Abdul Zaben, Urs Kindler, Marie-Cécile Kienitz, Julienne Dietz, Hyun-Woo Jeong, Pierre Böhme, Beate Brand-Saberi, Matthias Vorgerd, Holm Zaehres   +9 more
doaj   +4 more sources

Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches [PDF]

Pathophysiology, 2021
Limb girdle muscular dystrophy type R1 disease is a progressive disease that is caused by mutations in the CAPN3 gene and involves the extremity muscles of the hip and shoulder girdle. The CAPN3 protein has proteolytic and non-proteolytic properties. The
İzem Olcay Şahin, Yusuf Özkul, Munis Dündar   +2 more
doaj   +3 more sources

Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy [PDF]

Case Reports in Neurological Medicine
Rhabdomyolysis, an emergency medical condition linked to muscle necrosis and intracellular substances released into the bloodstream, significantly endangers military personnel in heat-stress conditions.
Sethapong Lertsakulbunlue, Boonsub Sakboonyarat, Piradee Suwanpakdee, Boonchai Boonyawat   +3 more
doaj   +3 more sources

Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study [PDF]

BMC Neurology
Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations.
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium   +11 more
doaj   +3 more sources

A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy [PDF]

Cell Reports Medicine, 2020
Summary: Mutations in CAPN3 cause limb girdle muscular dystrophy R1 (LGMDR1, formerly LGMD2A) and lead to progressive and debilitating muscle wasting. Calpain 3 deficiency is associated with impaired CaMKIIβ signaling and blunted transcriptional programs
Jian Liu, Jesus Campagna, Varghese John, Robert Damoiseaux, Ekaterina Mokhonova, Diana Becerra, Huan Meng, Elizabeth M. McNally, April D. Pyle, Irina Kramerova, Melissa J. Spencer   +10 more
doaj   +2 more sources

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

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   +2 more sources

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1 [PDF]

Orphanet Journal of Rare Diseases
Background Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene.
Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K Goyal   +3 more
doaj   +2 more sources

Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy [PDF]

Arthritis Research & Therapy
Objective Limb-girdle muscular dystrophy (LGMD) is usually confused with idiopathic inflammatory myopathy (IIM) in clinical practice. Our study aimed to establish convenient and reliable diagnostic models for distinguishing between LGMD and IIM.
Guangyu Wang, Lijun Fu, Lining Zhang, Kai Shao, Ying Hou, Tingjun Dai, Pengfei Lin, Chuanzhu Yan, Bing Zhao   +8 more
doaj   +2 more sources