Results 41 to 50 of about 44,988 (276)

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

Medical management of hereditary optic neuropathies. [PDF]

, 2014
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero, Carbonelli, Michele, Carelli, Valerio, La Morgia, Chiara, Sadun, Alfredo Arrigo   +4 more
core   +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.
Carsten Lundby, Christina M. Spengler, Hans H. Jung, Jens A. Petersen, Maria Ligon-Auer, Sandro Manuel Mueller, Saskia Maria Gehrig, Sebastian Frese, Violeta Mihaylova   +8 more
core   +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

Myopathy reversion in mice after restauration of mitochondrial complex I

EMBO Molecular Medicine, 2020
Myopathies are common manifestations of mitochondrial diseases. To investigate whether gene replacement can be used as an effective strategy to treat or cure mitochondrial myopathies, we have generated a complex I conditional knockout mouse model lacking
Claudia V Pereira, Susana Peralta, Tania Arguello, Sandra R Bacman, Francisca Diaz, Carlos T Moraes   +5 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

Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]

, 2018
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria, Brea-Calvo, Gloria, Trevisson, Eva   +2 more
core   +1 more source

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

BMC Anesthesiology, 2019
Background We 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 of ...
Marci B. Pepper, Catherine Njathi-Ori, Michelle Ochs Kinney   +2 more
doaj   +1 more source

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Нервно-мышечные болезни, 2019
Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology.
S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova   +8 more
doaj   +1 more source

VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo. [PDF]

, 2015
Lysosomes are classically viewed as vesicular structures to which cargos are delivered for degradation. Here, we identify a network of dynamic, tubular lysosomes that extends throughout Drosophila muscle, in vivo. Live imaging reveals that autophagosomes
Davis, Graeme W, Hauswirth, Anna G, Johnson, Alyssa E, Shu, Huidy, Tong, Amy   +4 more
core   +3 more sources