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Muscle function is regulated by Ca2+, which mediates excitation-contraction coupling, energy metabolism, adaptation to exercise, and sarcolemmal repair. Several of these actions rely on Ca2+ delivery to the mitochondrial matrix...

Atrophy autosomal recessive Calcium Injury membrane Mitochondria mitochondrial disease muscle disease Adolescent Adult Animals Calcium Calcium Signaling Calcium-Binding Proteins Cation Transport Proteins Cell Membrane Cytosol Female FIBROBLASTS Homeostasis Humans Male Mice Knockout Mitochondria Mitochondrial Membrane Transport Proteins Models Biological Muscle Contraction Muscle Weakness Muscle Skeletal Muscular Atrophy Sarcolemma Tetanus Wasting Syndrome

Cardiovascular and skeletal muscle manifestations constitute important comorbidities in COPD, with systemic inflammation proposed as a common mechanistic link. Fibrinogen has prognostic role in COPD. We aimed to determine...

copd pathology Aged Aorta Cross-Sectional Studies Female Fibrinogen Humans Male Middle Aged Muscle Contraction Muscle Weakness Prospective Studies Pulmonary Disease Chronic Obstructive Pulse Wave Analysis Quadriceps Muscle Vascular Stiffness

Fibroblast cytoskeleton Fibroblast electron microscopy Fibroblast filopodia Fibroblast proteomics NEDHFBA PPP1R21 Proteasome Humans Proteasome Endopeptidase Complex speech Proteomics Muscle Weakness Mutation Protein Phosphatase 1 Actins Phenotype

BACKGROUND: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness. OBJECTIVE...

Myopathies N-Acetylneuraminic Acid Muscle Weakness Muscular Diseases Adult Bulgaria Distal Myopathies Female Humans Lower Extremity Male Middle Aged Muscle Strength Muscle Weakness Muscle Skeletal Prospective Studies Young Adult

The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the...

Acetylcholinesterase Adrenergic beta-Agonists Agrin Albuterol Animals Collagen Disease Models Animal Dystroglycans Mice Mice Knockout Muscle Fibers Skeletal Muscle Proteins Muscle Weakness Myasthenic Syndromes Congenital Neuromuscular Junction Receptors Cholinergic Signal Transduction Synaptic Transmission

Aged Arthralgia Clinical Protocols Cohort Studies Exercise Therapy Female Humans Knee Joint Male Middle Aged Muscle Weakness Postural Balance

Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing...

Adolescent Adult Anoctamins ataxia Child Female Humans Membrane Proteins Middle Aged Mitochondrial Diseases Muscle Weakness Mutation Ubiquinone Young Adult

Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic...

TANGO2 fatty acid metabolism metabolic encephalomyopathy MITOCHONDRIAL DYSFUNCTION proteomic analysis rhabdomyolysis Brain Diseases Metabolic Fatty Acids Female Golgi Apparatus Homozygote Humans Infant Male Mitochondrial Diseases Muscle Weakness Mutation Oxidative Phosphorylation Phenotype Proteomics Rhabdomyolysis whole genome sequencing

Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22...

Humans Muscle Weakness Genetic Predisposition to Disease Cohort Studies aging Polymorphism Single Nucleotide Aged Aged 80 and over Middle Aged Europe Female Male Muscle Strength Genome-Wide Association Study Growth Differentiation Factor 5 Sarcopenia HLA-DQ alpha-Chains

Immune-mediated necrotising myopathy (IMNM) is a severe and poorly understood complication of statin use. Prompt management with immunosuppressive treatment is often needed to control the condition, which differs from the...

creatine kinase Immunoglobulin intravenous Immunosuppressive Agents Methotrexate Muscle Weakness Prednisolone Humans Child Female Hydroxymethylglutaryl-CoA Reductase Inhibitors Autoantibodies Necrosis Myositis Autoimmune Diseases Muscular Diseases Muscle Weakness Immunosuppressive Agents

Insulin resistance in muscle, adipocytes and liver is a gateway to a number of metabolic diseases. Here, we show a selective deficiency in mitochondrial coenzyme Q (CoQ) in insulin-resistant adipose and muscle tissue. This...

coenzyme Q Insulin Insulin Resistance Mitochondria Oxidants Ubiquinone Cell Biology human human biology Medicine MOUSE Adipocytes Adipose Tissue Animals ataxia Humans Insulin Resistance Mice Mitochondria Mitochondrial Diseases Muscle Weakness Muscles Oxidants Sensitivity and Specificity Ubiquinone