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Progressive myopathy with a combined respiratory chain defect including Complex II
(Elsevier B.V., 2008-01-15)
Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported ...
Mitochondrial Dysfunction In Idiopathic Inflammatory Myopathy Derived Myoblasts
(2017)
Background Idiopathic inflammatory myopathies (IIM) are acquired skeletal muscle diseases, characterized by proximal muscle weakness. This syndrome includes five different (1) diseases, nevertheless, in this work, we ...
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop
(Elsevier B.V., 2000-10-01)
We report a novel mitochondrial DNA alteration in a 12-year-old boy with myopathy. We identified a single nucleotide insertion tan adenine) in the mitochondrial tRNA-glutamine gene. This addition of an additional adenine ...
Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course
(ELSEVIER SCIENCE BV, 2009)
We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical ...
Neumopatía crónica secundaria al trastorno de la deglución en un paciente con miopatía mitocondrialChronic pneumopathy secondary to swallowing disorder in a patient with mitochondrial myopathy
(Universidad de Antioquia, Facultad de MedicinaGrupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - PediacienciasMedellín, Colombia, 2022)
Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy
(Associação Brasileira de Divulgação Científica, 2015-01-01)
Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with ...
Histomorphologic and ultrastructural recovery of myopathy in rats treated with low-level laser therapy
(Springer London Ltd, 2017-05)
The purpose of the present work was to study the effect of low-level laser therapy (LLLT): helium-neon (He-Ne) and gallium arsenide (Ga-As) laser on the histomorphology of muscle and mitochondria in experimental myopathy ...
Ação neuro-muscular do veneno crotálico: dados preliminares
(Academia Brasileira de Neurologia (ABNEURO), 1996-03-01)
Estudamos 6 pacientes, 2 cães e um coelho com intoxicação crotálica. Avaliamos a condução nervosa periférica sensitiva e motora, a transmissão neuromuscular e eletromiografias. As biópsias de músculo foram processadas por ...
Ação neuro-muscular do veneno crotálico: dados preliminares
(Academia Brasileira de Neurologia (ABNEURO), 1996-03-01)
Estudamos 6 pacientes, 2 cães e um coelho com intoxicação crotálica. Avaliamos a condução nervosa periférica sensitiva e motora, a transmissão neuromuscular e eletromiografias. As biópsias de músculo foram processadas por ...
A Novel Mechanism Causing Imbalance Of Mitochondrial Fusion And Fission In Human Myopathies
(2018)
Mitochondrial dynamics play an important role in cellular homeostasis and a variety of human diseases are linked to its dysregulated function. Here, we describe a 15-year-old boy with a novel disease caused by altered ...