Mitochondrial myopathy revealed postoperative acute respiratory failure: A case report. [PDF]
Park SY +8 more
europepmc +1 more source
Using mice, we applied multi‐omics to compare liver and skeletal muscle after chronic alcohol consumption. The liver responded more strongly across genes, proteins, and metabolites, with a lowered PC:PE ratio. Muscle showed inflammation, extracellular matrix activation, impaired mitochondrial energetics, and an elevated PC:PE ratio. Lipidomics affected
Craig R. G. Willis +6 more
wiley +1 more source
Systemic mitochondrial involvement in mitochondrial myopathy with episodic hyper-creatine kinase-emia: insights from an autopsy case. [PDF]
Nagatomo R +14 more
europepmc +1 more source
Psychometric performance of the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) in a randomized, double-blind, placebo-controlled crossover study in subjects with mitochondrial disease. [PDF]
Gwaltney C +9 more
europepmc +1 more source
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia
ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides +15 more
wiley +1 more source
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews. [PDF]
McCormick EM +6 more
europepmc +1 more source
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy [PDF]
Debby M.E.I. Hellebrekers +9 more
openalex +1 more source
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Heidrun H. Krämer‐Best +8 more
wiley +1 more source
GDF15 Neutralization Ameliorates Muscle Atrophy and Exercise Intolerance in a Mouse Model of Mitochondrial Myopathy. [PDF]
Flaherty SE +14 more
europepmc +1 more source

