Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24081
Abstract: Biallelic mutations in the C1QBP gene have been associated with mitochondrial cardiomyopathy and combined respiratory‐chain deficiencies, with variable onset (including intrauterine or neonatal forms), phenotypes, and severity. We studied two unrelated adult patients from consanguineous… read more here.
Keywords: peo mitochondrial; progressive external; mutations c1qbp; external ophthalmoplegia ... See more keywords
Successful treatment of a patient with mitochondrial myopathy with alirocumab.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2020.07.007
Abstract: A 48-year-old man presented to our lipid clinic with statin intolerance and elevated serum creatine kinase levels, being affected by mitochondrial myopathy because of heteroplasmic mitochondrial DNA missense mutation in MTCO1 gene (m.7671T>A). He had… read more here.
Keywords: myopathy alirocumab; successful treatment; patient mitochondrial; mitochondrial myopathy ... See more keywords
Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000000151
Abstract: masticatory and facial muscles, and mild dysarthria and To the Editor: Mutations in mitochondrial DNA (mtDNA) cause mitochondrial diseases with multisystem involvedysphagia. At the age of 32, he complained of distal ment and variable clinical… read more here.
Keywords: merrf; mutation mitochondrial; mitochondrial myopathy; 5703g mutation ... See more keywords
Generalized Muscular Hypermetabolism Caused by Mitochondrial Myopathy Shown on 18F-FDG PET/CT.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical nuclear medicine"
DOI: 10.1097/rlu.0000000000004542
Abstract: ABSTRACT An 18-year-old man presented with progressive exercise intolerance and muscle weakness for 1 year with recent acute exacerbation. Laboratory test demonstrated lactic acidosis. 18F-FDG PET/CT was performed to exclude malignancy and showed generalized muscular… read more here.
Keywords: muscular hypermetabolism; generalized muscular; fdg pet; mitochondrial myopathy ... See more keywords
Lactate metabolism is essential in early-onset mitochondrial myopathy
Sign Up to like & getrecommendations! Published in 2023 at "Science Advances"
DOI: 10.1126/sciadv.add3216
Abstract: Myopathies secondary to mitochondrial electron transport chain (ETC) dysfunction can result in devastating disease. While the consequences of ETC defects have been extensively studied in culture, little in vivo data are available. Using a mouse… read more here.
Keywords: essential early; metabolism essential; lactate metabolism; early onset ... See more keywords
Don’t stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility
Sign Up to like & getrecommendations! Published in 2019 at "BMC Anesthesiology"
DOI: 10.1186/s12871-019-0909-1
Abstract: BackgroundWe aim to describe the evaluation and management of a patient with the uncommon combination of both mitochondrial myopathy and possible malignant hyperthermia susceptibility as an important source of information and as a valuable example… read more here.
Keywords: hyperthermia susceptibility; mitochondrial myopathy; myopathy possible; malignant hyperthermia ... See more keywords
Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-019-2255-9
Abstract: BackgroundMaternally inherited diabetes and deafness, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are examples of mitochondrial diseases that are relatively common in the adult population. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes… read more here.
Keywords: amino; like episode; mitochondrial myopathy; acid ... See more keywords
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Sign Up to like & getrecommendations! Published in 2023 at "Neurology"
DOI: 10.1212/wnl.0000000000207402
Abstract: BACKGROUND AND OBJECTIVES Primary Mitochondrial Myopathies (PMMs) encompass a group of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely impacting physical function, exercise capacity, and quality of life (QoL). Current PMM standards-of-care address symptoms, with… read more here.
Keywords: trial; fatigue; efficacy; primary mitochondrial ... See more keywords
Unexplained dyspnea linked to mitochondrial myopathy following military deployment to Southwest Asia and Afghanistan
Sign Up to like & getrecommendations! Published in 2023 at "Physiological Reports"
DOI: 10.14814/phy2.15520
Abstract: We identified a case of probable mitochondrial myopathy (MM) in a soldier with dyspnea and reduced exercise tolerance through cardiopulmonary exercise testing (CPET) following Southwest Asia (SWA) deployment. Muscle biopsy showed myopathic features. We compared… read more here.
Keywords: dyspnea; southwest asia; deployment; mitochondrial myopathy ... See more keywords
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.
Sign Up to like & getrecommendations! Published in 2023 at "EMBO molecular medicine"
DOI: 10.15252/emmm.202216951
Abstract: Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy-dependent, mitochondrial diseases often affect skeletal muscle. Although genetic and bioenergetic causes of OXPHOS… read more here.
Keywords: human mitochondrial; metabolic response; coordinated multiorgan; mitochondrial myopathy ... See more keywords
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China
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DOI: 10.3389/fneur.2020.01000
Abstract: Introduction: Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking. Patients and Methods: In this study, we retrospectively reviewed the clinical presentation, laboratory investigation, genetic and histopathological characteristics, and… read more here.
Keywords: mitochondrial myopathy; pediatric mitochondrial; clinical profile; profile outcome ... See more keywords