Results 11 to 20 of about 419,034 (232)

Remarks on Mitochondrial Myopathies. [PDF]

Int J Mol Sci, 2022
Mitochondrial myopathies represent a heterogeneous group of diseases caused mainly by genetic mutations to proteins that are related to mitochondrial oxidative metabolism. Meanwhile, a similar etiopathogenetic mechanism (i.e., a deranged oxidative phosphorylation and a dramatic reduction of ATP synthesis) reveals that the evolution of these myopathies ...
Bottoni P, Gionta G, Scatena R.
europepmc   +4 more sources

Mitochondrial myopathies

Annals of Neurology, 1985
AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S., Bonilla E., Zeviani M., Nakagawa M., DeVivo D. C.   +4 more
core   +4 more sources

Frequency of Childhood Mitochondrial Myopathies

Pediatric Neurology Briefs, 2000
The frequency of mitochondrial diseases among patients with childhood encephalopathies and myopathies in a defined population of Northern Finland was investigated at the University of Oulu, Finland.
J Gordon Millichap
doaj   +2 more sources

Mitochondrial myopathies

Journal of Inherited Metabolic Disease, 1987
AbstractThe mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of β‐oxidation; (3) defects of the Krebs cycle, such as fumarase ...
DiMauro S., Bonilla E., Zeviani M., Servidei S., DeVivo D. C., Schon E. A.   +5 more
openaire   +3 more sources

Characteristics of metabolic myopathies among Egyptian patients

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and \or weakness, they present with episodic or fixed manifestations.
Mennat-Allah M. Elgamal, Hebatallah Rashed, Maha Nada, Hossam Sakr, Nagia Fahmy   +4 more
doaj   +2 more sources

Advances in Management of Mitochondrial Myopathies. [PDF]

Int J Mol Sci
Mitochondria, the energy factories of human organisms, can be the cause of a variety of genetic disorders called mitochondrial myopathies. Mitochondrial diseases arise from genetic alterations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) and
Bangeas A, Poulidou V, Liampas I, Marogianni C, Aloizou AM, Tsouris Z, Sgantzos M, Arnaoutoglou M, Bogdanos DP, Dardiotis E, Siokas V.   +10 more
europepmc   +2 more sources

Mitochondrial myopathies [PDF]

British Medical Bulletin, 1989
The mitochondrial myopathies give rise to a diverse group of clinical syndromes, variably involving skeletal muscle and the central nervous system, with onset in childhood or adult life. In vitro studies of mitochondrial metabolism have identified a variety of functional defects of the respiratory chain, predominantly affecting complex I or complex III
A E, Harding, I J, Holt
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Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies

Journal of Cachexia, Sarcopenia and Muscle, 2023
Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies ...
Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou   +10 more
doaj   +1 more source

Metabolic and Mitochondrial Myopathies

, 2023
Metabolic and mitochondrial myopathies are genetic disorders that cause muscle disease due to a deficiency in energy metabolism. Particularly, lipid and carbohydrate metabolism disorders cause myopathy.
Diniz, Gülden, Canda, Ebru Erbaş, Köse, Melis Demir   +2 more
core   +1 more source

Muscle biopsy essential diagnostic advice for pathologists

Surgical and Experimental Pathology, 2021
Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis.
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Jaquelin Valicek, Monica M. Navarro, Sidney Baptista Junior, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes, Antonio Pedro Vargas, Rafael Xavier Neto, Julia Filardi Paim   +14 more
doaj   +1 more source