Results 61 to 70 of about 5,778 (164)

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

Molecular Genetics and Metabolism Reports, 2016
Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT).
Massimiliano Filosto, Gaetana Lanzi, Claudia Nesti, Valentina Vielmi, Eleonora Marchina, Anna Galvagni, Silvia Giliani, Filippo M. Santorelli, Alessandro Padovani   +8 more
doaj   +1 more source

Myosin myopathy presenting as chronic progressive external ophthalmoplegia

Annals of Indian Academy of Neurology, 2023
Aamna M H. Maniyar, Rakesh K Singh, Pawan T Ojha, Gaurav S Chaudhary, Anuradha P Mahto, Arjun G Shah   +5 more
doaj   +1 more source

A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

Pediatrics and Neonatology, 2012
Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and ...
Hsin-Ming Liu, Li-Ping Tsai, Yin-Hsiu Chien, Jia-Feng Wu, Wen-Chin Weng, Shinn-Forng Peng, En-Ting Wu, Pei-Hsin Huang, Wang-Tso Lee, I-Jun Tsai, Wuh-Liang Hwu, Ni-Chung Lee   +11 more
doaj   +1 more source

Mitochondrial disease in children : from clinical presentation to genetic background [PDF]

, 2017
Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
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

Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension

Archives of Plastic Surgery, 2015
Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with ...
Laurenz Weitgasser, Gottfried Wechselberger, Florian Ensat, Rene Kaplan, Michaela Hladik   +4 more
doaj   +1 more source

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China

Frontiers in Neurology, 2020
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 ...
Chaoping Hu, Xihua Li, Lei Zhao, Yiyun Shi, Shuizhen Zhou, Yi Wang   +5 more
doaj   +1 more source

Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy [PDF]

, 2015
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 MM.
Bravo, Daniela Manzoli, Gimenes, Ana Cristina Oliveira, Mello, Marco Tulio de, Neder, Jose Alberto, Nery, Luiz Eduardo, Nápolis, Lara Maris, Oliveira, Acary Souza Bulle   +6 more
core   +2 more sources

Mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase enzyme deficiency: From pathogenesis to emerging therapeutic options [PDF]

, 2017
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency.
Coo, I.F.M. (René) de, Smitt, P.S., Til, N.P. (Niek) van, van Gisbergen, M.W., Yadak, R.M.A. (Rana)   +4 more
core   +3 more sources

Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review

Archives of Plastic Surgery
Kearns–Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical ...
Moulay O. Moustaine, Zakaria Azemour, Frarchi Mohammed, Othman Benlanda, Hicham Nassik, Mehdi Karkouri   +5 more
doaj   +1 more source