Nanomedicine, a valuable tool for skeletal muscle disorders: Challenges, promises, and limitations
Sign Up to like & getrecommendations! Published in 2022 at "Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology"
DOI: 10.1002/wnan.1777
Abstract: Abstract Muscular dystrophies are a group of rare genetic disorders characterized by progressive muscle weakness, which, in the most severe forms, leads to the patient's death due to cardiorespiratory problems. There is still no cure… read more here.
Keywords: valuable tool; muscle; muscle disorders; tool skeletal ... See more keywords
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/j.jacc.2018.08.2182
Abstract: Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or… read more here.
Keywords: muscle disorders; phenotypes hereditary; muscle; cardiac phenotypes ... See more keywords
Metabolic lipid muscle disorders: biomarkers and treatment
Sign Up to like & getrecommendations! Published in 2019 at "Therapeutic Advances in Neurological Disorders"
DOI: 10.1177/1756286419843359
Abstract: Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment… read more here.
Keywords: treatment metabolic; lipid muscle; muscle disorders; disorders biomarkers ... See more keywords
Posture and skeletal muscle disorders of the neck due to the use of smartphones
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Sport and Exercise"
DOI: 10.14198/jhse.2020.15.proc3.11
Abstract: The aim of the research is to verify some variables on the use of the smartphone, associated with musculoskeletal pain and any other data that amplify its dependence or use. Smartphones have become an integral… read more here.
Keywords: skeletal muscle; muscle disorders; posture skeletal; use ... See more keywords
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-220801
Abstract: BACKGROUND Hereditary muscle disorders are clinically and genetically heterogeneous. Limited information is available on their genetic makeup and their prevalence in India. OBJECTIVE To study the genetic basis of prevalent hereditary myopathies. MATERIAL AND METHODS… read more here.
Keywords: appraisal hereditary; muscle disorders; genetic appraisal; study ... See more keywords
Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101736
Abstract: Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, ANO5. ANO5 is a 913-amino acid protein of the anoctamin family that functions predominantly… read more here.
Keywords: disorders narrative; phenotype; ano5 muscle; muscle ... See more keywords
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22084256
Abstract: Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES… read more here.
Keywords: muscle disorders; filament proteins; muscle; skeletal cardiac ... See more keywords
Mitochondrial Dysfunction as an Underlying Cause of Skeletal Muscle Disorders
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232112926
Abstract: Mitochondria are an important energy source in skeletal muscle. A main function of mitochondria is the generation of ATP for energy through oxidative phosphorylation (OXPHOS). Mitochondrial defects or abnormalities can lead to muscle disease or… read more here.
Keywords: muscle; muscle disorders; mitochondrial dysfunction; dysfunction underlying ... See more keywords
Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Pathology and Microbiology"
DOI: 10.4103/ijpm.ijpm_1113_21
Abstract: Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory… read more here.
Keywords: electron microscopy; diagnosis; microscopy; muscle disorders ... See more keywords