Results 91 to 100 of about 9,186 (248)

Mitochondrial tRNA Valine in Cardiomyopathies [PDF]

, 2015
Mitochondrial respiratory chain disorders are a heterogeneous group of diseases that clinically involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle.
Borstein, Belén, Galera, Teresa, Gallardo, M. Esther, Garesse, Rafael   +3 more
core   +2 more sources

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Molecular Genetics and Metabolism Reports, 2016
m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the
E. Keilland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad   +5 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

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

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

Movement Disorders, Volume 40, Issue 7, Page 1433-1441, July 2025.
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Zachary B. Anderson, Mariam Isayan, Kimberly Paquette, Sophia B. Gibson, Madison Fulcher, Abigail Miano‐Burkhardt, Laksh Malik, Breeana Baker, Paige Jarreau, Henry Houlden, Mina Ryten, Bida Gu, Mark J.P. Chaisson, Danny E. Miller, Pedro Chaná‐Cuevas, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley   +22 more
wiley   +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

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non‐Regressive Autism: A Cross‐Sectional Study

Autism Research, Volume 18, Issue 6, Page 1290-1300, June 2025.
ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni, Alana Iaboni, Brett Trost, Miriam Reuter, Zsuzsa Lindenmaier, Azadeh Kushki, Elizabeth Kelley, Jessica Jones, Muhammed Ayub, Stelios Georgiades, Robert Nicolson, Elim Chan, Andrada Cretu, Jessica Brian, Evdokia Anagnostou   +14 more
wiley   +1 more source

Dural Arteriovenous Malformations: A Review of the Literature and a Presentation of the JHN Series [PDF]

, 2010
Dural arteriovenous malformations (DAVMs), also known as dural arteriovenous fistulas, are arteriovenous shunts from a dural arterial supply to a dural venous channel, typically supplied by pachymeningeal arteries and located near a major venous sinus.1 ...
Gonzalez, L. Fernando, Jabbour, Pascal, MD, Marchan, Ed, Randazzo MD, Ciro, Rosenwasser MD, Robert H., Tjoumakaris, Stavropoula   +5 more
core   +2 more sources