Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pulmonary Tuberculosis IV

Pulmonary Tuberculosis IV

Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...

Radiological Investigation III: Pulmonary Angiogram and PET Scan

Radiological Investigation III: Pulmonary Angiogram and PET Scan

Radiological investigations are paramount in the diagnosis and management of various pulmonary diseases. Two essential investigations are the Pulmonary Angiogram and the Positron Emission Tomography (PET) Scan.
Pulmonary Angiogram
A Pulmonary Angiogram is an invasive procedure involving injecting a contrast medium through a catheter threaded into the pulmonary artery or the right side of the heart to visualize the pulmonary vasculature. Computed Tomography (CT) scans have mainly replaced this...

Imaging Studies II: Positron Emission Tomography and Scintigraphy

Imaging Studies II: Positron Emission Tomography and Scintigraphy

Positron Emission Tomography (PET) is a medical imaging technique that provides crucial insights into the body's physiological functions at a molecular level. It is an indispensable resource for diagnosing, staging, and monitoring various illnesses, notably cancer, neurological disorders, and cardiovascular conditions.
Fundamental Principles of PET

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Estimating motor unit numbers from a CMAP scan: Repeatability study on three muscles at 15 centres.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2023

Same author

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.

European journal of neurology·2020

Same author

Systematic review of cognitive deficits in adult mitochondrial disease.

European journal of neurology·2019

Same author

Design and baseline characteristics of the Biomarkers Of Risk In Colorectal Cancer (BORICC) Follow-Up study: A 12+ years follow-up.

Nutrition and health·2019

Same author

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Genetics in medicine : official journal of the American College of Medical Genetics·2019

Same author

Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk.

The Proceedings of the Nutrition Society·2019

Search research articles

Related Experiment Video

Updated: Jun 26, 2026

Skin Tattooing As A Novel Approach For DNA Vaccine Delivery

Skin Tattooing As A Novel Approach For DNA Vaccine Delivery

Published on: October 18, 2012

A diagnostic tattoo.

R G Whittaker¹, D M Turnbull

¹Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK. r.whittaker@ncl.ac.uk

Clinical Genetics

|January 9, 2009

Summary

This summary is machine-generated.

Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a rare mitochondrial disorder. A common mitochondrial DNA mutation (A8344G) causes MERRF, affecting over 80% of patients.

More Related Videos

A Two-Step Pyrolysis-Gas Chromatography Method with Mass Spectrometric Detection for Identification of Tattoo Ink Ingredients and Counterfeit Products

A Two-Step Pyrolysis-Gas Chromatography Method with Mass Spectrometric Detection for Identification of Tattoo Ink Ingredients and Counterfeit Products

Published on: May 22, 2019

Methods for Tattooing Xenopus laevis with a Rotary Tattoo Machine

Methods for Tattooing Xenopus laevis with a Rotary Tattoo Machine

Published on: June 28, 2024

Related Experiment Videos

Last Updated: Jun 26, 2026

Skin Tattooing As A Novel Approach For DNA Vaccine Delivery

Skin Tattooing As A Novel Approach For DNA Vaccine Delivery

Published on: October 18, 2012

A Two-Step Pyrolysis-Gas Chromatography Method with Mass Spectrometric Detection for Identification of Tattoo Ink Ingredients and Counterfeit Products

A Two-Step Pyrolysis-Gas Chromatography Method with Mass Spectrometric Detection for Identification of Tattoo Ink Ingredients and Counterfeit Products

Published on: May 22, 2019

Methods for Tattooing Xenopus laevis with a Rotary Tattoo Machine

Methods for Tattooing Xenopus laevis with a Rotary Tattoo Machine

Published on: June 28, 2024

Area of Science:

Neurology
Genetics
Mitochondrial Medicine

Background:

Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by epilepsy, ataxia, and ragged red fibers on muscle biopsy.
It is a rare mitochondrial encephalomyopathy with an estimated prevalence of 0.25–0.39 per 100,000 individuals.

Observation:

A 25-year-old male presented with myoclonic jerks, fatigue, and mild ataxia starting at age 22.
Clinical presentation included myoclonic jerks in limbs, fatigue, and mild ataxia.

Findings:

Genetic analysis revealed an A>G transition at nucleotide 8344 in mitochondrial DNA.
This specific mutation is identified in over 80% of MERRF syndrome patients, confirming it as the most frequent cause.

Implications:

This case highlights the genetic basis of MERRF syndrome, emphasizing the common A8344G mitochondrial DNA mutation.
Increased public understanding of rare mitochondrial disorders like MERRF is crucial for patient support and diagnosis.