Results 31 to 40 of about 444,467 (232)

Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia

Cells, 2020
Mitochondrial dysfunction has been implicated as a central mechanism in the metabolic myopathy accompanying critical limb ischemia (CLI). However, whether mitochondrial dysfunction is directly related to lower extremity ischemia and the structural and ...
Thomas Groennebaek, Tine Borum Billeskov, Camilla Tvede Schytz, Nichlas Riise Jespersen, Hans Erik Bøtker, Rikke Kathrine Jentoft Olsen, Nikolaj Eldrup, Joachim Nielsen, Jean Farup, Frank Vincenzo de Paoli, Kristian Vissing   +10 more
doaj   +1 more source

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report

Journal of Medical Case Reports, 2019
Background Maternally 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,
Mai Fukuda, Yoshiro Nagao
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Progressive depletion of mtDNA in mitochondrial myopathy

The authors studied seven patients with mitochondrial DNA (mtDNA) myopathy. Over time, there was a progressive depletion of mtDNA, which preferentially affected wild-type mitochondrial genomes.
Durham SE, Chinnery PF, Brown DT, Turnbull DM   +3 more
core   +4 more sources

The role of mTOR complex 1 in skeletal muscle [PDF]

, 2012
An important factor in energy and nutrient pathways is the mammalian target of rapamycin complex 1 (mTORC1). The multiprotein complex, with the central component mTOR, regulates cell growth and survival.
Romanino, Klaas Emilio Antonius Anna
core   +1 more source

Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review

Frontiers in Neurology, 2019
Isolated mitochondrial myopathy refers to the condition of mitochondrial disorders that primarily affect the skeletal muscle system. Here we report on a case of a patient who presented with acute respiratory failure as the initial and predominant ...
Xiaoli Pan, Lijun Wang, Lijun Wang, Guoqiang Fei, Jihong Dong, Chunjiu Zhong, Jiahong Lu, Lirong Jin   +7 more
doaj   +1 more source

Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy [PDF]

, 2016
BACKGROUND: Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches remain elusive.
Mueller, Sandro Manuel, Sandro Manuel Mueller, Saskia Maria Gehrig, Frese, Sebastian, Jung, Hans H., Ligon-Auer, Maria, Jung, Hans H, Müller, Sandro Manuel, Hans H. Jung, Maria Ligon-Auer, Violeta Mihaylova, Spengler, Christina M., Christina M. Spengler, Petersen, Jens A, Mihaylova, Violeta, Sebastian Frese, Carsten Lundby, Lundby, Carsten, Jens A. Petersen, Petersen, Jens A., Gehrig, Saskia Maria, Spengler, Christina M, Gehrig SM, Jung HH, Mueller SM, Petersen JA, Spengler CM, Lundby C, Mihaylova V, Ligon-Auer M, Frese S   +30 more
core   +1 more source

Deep Learning-Based Adjunctive Therapy Tool for Mitochondrial Dysfunction

ES General, 2023
Mitochondrial myopathy is a maternally inherited metabolic disease, the root cause of which is mitochondrial structure and dysfunction due to genetic mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA).
Handong Li, Xiangyu Zhang, Ishita Gulati, Satnam Dlay   +3 more
doaj   +1 more source

Neuromuscular Disorders: A Histomorphological and Clinicopathological Evaluation in a Tertiary Care Centre

Journal of Medical Sciences and Health, 2023
Background: Neuromuscular disorders are rare, inherited progressive disorders leading to major disabilities over the years. As a group, there prevalence is not so uncommon and requires attention in view of their rising cases. Muscle biopsy forms
Ashmeet Kaur, Anita Harsh, Kapil Takhar, Kusum Mathur, Rateesh Sareen   +4 more
doaj   +1 more source

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

Case Reports in Neurological Medicine, 2019
The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion.
V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso   +5 more
doaj   +1 more source