A 16-year-old boy with myoclonus, epilepsy and ataxia

A 16-year-old boy with myoclonus, epilepsy and ataxia

doi: 10.3969/j.issn.1672-6731.2014.03.020

Bibliographic Details
Main Authors:	He-cheng YANG, Qiang LU, Yin-chang YANG, Li-ying CUI
Format:	Article
Language:	English
Published:	Tianjin Huanhu Hospital 2014-03-01
Series:	Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:	Mitochondrial encephalomyopathies Epilepsy MERRF syndrome Case reports
Online Access:	http://www.cjcnn.org/index.php/cjcnn/article/view/922

Similar Items

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
by: Shuang Wang, et al.
Published: (2021-07-01)

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report
by: Domańska Martyna, et al.
Published: (2015-06-01)

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
by: Paulo José Lorenzoni, et al.
Published: (2014-10-01)

Common comorbidity of epilepsy: a review of new progress
by: Xue YANG, et al.
Published: (2012-10-01)

Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?
by: José Luiz Pedroso, et al.
Published: (2020-08-01)

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report
by: Xiaojing Li, et al.
Published: (2020-11-01)

Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation
by: Cunzhou Shen, et al.
Published: (2018-09-01)

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
by: Antonios Tawk, et al.
Published: (2020-04-01)

A case report of an adult MELAS with symptom of digestive system
by: Yang WANG, et al.
Published: (2012-02-01)

Mitochondrial Syndromes Revisited
by: Daniele Orsucci, et al.
Published: (2021-03-01)

Mitochondrial encephalomyopathies : an analysis of clinical and laboratory data of patients at the Red Cross Children's Hospital
by: Riordan, Gillian Tracy Michele
Published: (2017)

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE)
by: P. Ayatollahi, et al.
Published: (2006-04-01)

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE)
by: P. Ayatollahi, et al.
Published: (2006-06-01)

Mitochondrial Encephalomyopathies: Incidence & DNA
by: J Gordon Millichap
Published: (2001-03-01)

Metabolic effects of bezafibrate in mitochondrial disease
by: Hannah Steele, et al.
Published: (2020-03-01)

Diagnosing MERRF requires clinical and genetic evidence
by: Josef Finsterer
Published: (2020-10-01)

Thiamine-Responsive Congenital Lactic Acidosis Without MC
by: J Gordon Millichap
Published: (2005-08-01)

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
by: Mauro Scarpelli, et al.
Published: (2012-12-01)

Mitochondrial encephalopathy: a case report and review of the literature
by: Yu-qiao XU, et al.
Published: (2013-06-01)

Mitochondrial DNA (mtDNA) mutations in patients with suspected myoclonic epilepsy and ragged red muscle fibres (MERRF), Leigh syndrome (LS), and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
by: Prosser, Debra Olive
Published: (2013)

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
by: Olimpia Musumeci, et al.
Published: (2019-02-01)

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil
by: Gabriela Palhares Campolina-Sampaio, et al.

Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations
by: Hongyan Huang, et al.
Published: (2019-01-01)

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy
by: Parham Habibzadeh, et al.
Published: (2020-05-01)

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion
by: Ana Cotta, et al.
Published: (2020-07-01)

Clinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment
by: S. V. Vlasenko, et al.
Published: (2018-10-01)

Regional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report
by: Tayfun Sugur, et al.
Published: (2021-01-01)

Mitochondrial Encephalopathy and Cytochrome C
by: J Gordon Millichap
Published: (1997-07-01)

Dystonia and Partial Cytochrome B Deficiency
by: J Gordon Millichap
Published: (1991-04-01)

Analysis of mtDNA A3243G mutation frequency in Hungary
by: Gal Aniko, et al.
Published: (2010-06-01)

Identificación de mutaciones en pacientes diagnosticados con MELAS y/o MERRF
by: Andrés Ruiz, et al.
Published: (2001-04-01)

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
by: Dario Ronchi, et al.
Published: (2020-08-01)

Protein coding mitochondrial-targeted RNAs rescue mitochondrial disease in vivo
by: Desiree M. Markantone, et al.
Published: (2018-09-01)

OPSOCLONUS-MYOCLONUS-ATAXIA SYNDROME
by: Milan Špegel, et al.
Published: (2002-01-01)

Mitochondrial encephalomyopathy: six cases report and review of literature
by: Yuan GUO, et al.
Published: (2014-07-01)

Phylogenetic analysis of mitochondrial DNA:detection of mutations in patients with occipital stroke
by: Finnilä, S. (Saara)
Published: (2000)

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment
by: Parham Habibzadeh, et al.
Published: (2019-09-01)

Myoclonus Epilepsies
by: J Gordon Millichap
Published: (1990-08-01)

Non-neutral sequence variation in human mitochondrial DNA: selection against deleterious mutations and haplogroup-related polymorphisms
by: Moilanen, J. (Jukka)
Published: (2003)

Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy
by: Mark Mencias, et al.
Published: (2021-04-01)