Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study [PDF]
Annals of Clinical and Translational NeurologyObjective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish ...
Lindsay Alfano, Doris Leung
exaly +6 more sources
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene.
Amets Saenz +2 more
exaly +6 more sources
Patient-specific iPSC-derived cellular models of LGMDR1
Stem Cell Research, 2021 Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain 3 gene, with over 500 mutations
Angel Raya, A Lopez De Munain
exaly +7 more sources
Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms [PDF]
Current Issues in Molecular BiologyBackground: Muscle atrophy is a major feature of Limb Girdle Muscular Dystrophy R1 (LGMDR1) patients, but its underlying molecular mechanisms have not been fully explored.
Sukanya Banerjee +3 more
doaj +3 more sources
In situ detection of activation of CAPN3, a responsible gene product for LGMDR1, in mouse skeletal myotubes [PDF]
Journal of Biological ChemistryCAPN3/calpain-3/p94, a muscle-specific Ca2+-dependent cysteine protease, is responsible for limb-girdle muscular dystrophy R1 (LGMDR1), an autosomal recessive muscular dystrophy. However, the activation mechanism and physiological function of CAPN3 in skeletal muscles remain unknown.
Yasuko Ono, Fumiko Shinkai-Ouchi
exaly +4 more sources
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related [PDF]
Journal of Neuromuscular DiseasesWe aimed to investigate the validity of urinary N-terminal titin (TTN) fragment as a biomarker for limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Thirteen LGMDR1 patients and eleven healthy controls were enrolled for the study. LGMDR1 patients had significantly increased urinary N-terminal titin fragment concentrations than age-matched ...
Amets Saenz +2 more
exaly +5 more sources
Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy [PDF]
Case Reports in Neurological MedicineRhabdomyolysis, 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 +3 more
doaj +3 more sources
NMR in BiomedicineLimb‐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 +2 more
exaly +6 more sources
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy [PDF]
CellsLimb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation.
Andrea Valls +13 more
doaj +2 more sources
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 +9 more
doaj +2 more sources