Expression of Myosin Storage Myopathy Mutations in Drosophila Disrupts Skeletal and Cardiac Muscle Structure and Function [PDF]
Biophysical Journal, 2019 Meera C. Viswanathan
semanticscholar +2 more sources
Smoking cessation, depression, and Myosin Storage Myopathy. Case report
Tobacco Prevention & Cessation, 2018 C. Martínez-Vispo +2 more
semanticscholar +2 more sources
Expression of Myosin Storage Myopathy Mutations in Drosophila Disrupts Muscle Function, Myofibrillar Structure and Causes Defects in Thick Filament Assembly [PDF]
Biophysical Journal, 2017 Meera C. Viswanathan +7 more
semanticscholar +2 more sources
An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Medaer L +13 more
europepmc +2 more sources
Molecular screening of lfs and pssm-i diseases in arabian horse population in turkey [PDF]
Kafkas Universitesi Veteriner Fakültesi Dergisi, 2017 Polysaccharide Storage Myopathy (PSSM) and Lavender Foal Syndrome (LFS) are inherited diseases in horse. PSSM-I, a point mutation in Glycogen Synthase-1 gen (GYS1) causes increased activation of the enzyme and abnormal polysaccharides formation.
BİLGEN N +3 more
doaj +1 more source
An overview of the current genetic and phenotypical selection strategies to reduce the prevalence of feline hypertrophic cardiomyopathy = Een overzicht van de huidige genetische en fenotypische selectiestrategieën tegen hypertrofe cardiomyopathie bij de kat [PDF]
, 2020 Hypertrophic cardiomyopathy (HCM) is a common and potentially lethal heart disease in cats. To reduce its prevalence, breeding cats are frequently screened on the basis of their phenotype or genotype.
Broeckx, Bart +3 more
core +1 more source
, 2020 Background Myosin storage myopathy (MSM) is caused by missense mutations in the MYH7 gene, which encodes the β-cardiac/slow skeletal muscle myosin heavy chain rod (MyHCI).
Lili Li, Riu Li, Dong-E Liu
semanticscholar +1 more source
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
core +1 more source
Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses. [PDF]
, 2019 BackgroundImmune-mediated myositis (IMM) in American Quarter Horses (QHs) causes acute muscle atrophy and lymphocytic infiltration of myofibers. Recently, an E321G mutation in a highly conserved region of the myosin heavy chain 1 (MYH1) gene was ...
Finno, Carrie J +6 more
core +2 more sources
Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]
, 2017 BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...
Aleman, M +3 more
core +1 more source