Related Experiment Video

Updated: Jul 7, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation

Sobha Sivaprasad, Boom Ting Kung, Anthony G Robson

    Clinical & Experimental Ophthalmology
    |February 23, 2008
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
    07:24

    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

    Published on: February 10, 2023

    Related Experiment Videos

    Last Updated: Jul 7, 2026

    Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
    08:56

    Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

    Published on: October 10, 2025

    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
    07:24

    Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

    Published on: February 10, 2023

    Related Concept Videos

    Animal Mitochondrial Genetics02:59

    Animal Mitochondrial Genetics

    Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

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

    The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

    HGG advances·2026

    XXYLT1 and Mendelian Retinal Dystrophy.

    JAMA ophthalmology·2026

    Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

    Genome medicine·2026

    Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy.

    Molecular therapy. Nucleic acids·2026

    Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

    NPJ genomic medicine·2026

    Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy.

    Ophthalmology science·2026

    Kcnv2 E151X Mouse Captures Hallmarks of KCNV2-Associated Retinal Dystrophy.

    Clinical & experimental ophthalmology·2026

    Correcting Axial Length-Related Magnification Errors in Optical Coherence Tomography Angiography Improves Machine Learning Classification Performance in High Myopia.

    Clinical & experimental ophthalmology·2026

    Reactivation of Thyroid Eye Disease: Incidence, Timing and Clinical Phenotype.

    Clinical & experimental ophthalmology·2026

    Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X-Linked Retinoschisis: The AXIS Trial.

    Clinical & experimental ophthalmology·2026

    The Notch Phenomenon in Retinopathy of Prematurity: A Potential Marker of Delayed Retinal Vascularisation.

    Clinical & experimental ophthalmology·2026

    Premium Intraocular Lens Selection in Patients With Glaucoma: A Clinical Review.

    Clinical & experimental ophthalmology·2026

    MRI Proton Density Fat Fraction as a Biomarker of Marrow Recovery Following Organ-Sparing Total Marrow Irradiation in Sickle Cell Disease.

    Journal of magnetic resonance imaging : JMRI·2026

    Delayed Diagnosis of Primary Sinonasal Mucosal Melanoma.

    Cureus·2026

    Spinal Mucormycosis Following a Traditional Cupping Procedure in a Diabetic Patient: A Rare Case Report from Somalia.

    International medical case reports journal·2026

    Atypical MRI presentation of symmetrical thalamic and basal ganglia lesions in adult-onset MOG-IgG-associated disease: a case report.

    Frontiers in human neuroscience·2026

    Metastatic Melanoma Presenting As Small Bowel Obstruction.

    Cureus·2026

    Beyond Adenosine Deaminase (ADA) and Mycobacterial Growth Indicator Tube (MGIT): The Utility of Xpert MTB/RIF Ultra for Diagnosis and Resistance Determination in Suspected Tubercular Pleural Effusion in a High-Burden State.

    Cureus·2026
    See all related articles
    JoVE
    x logofacebook logolinkedin logoyoutube logo
    ABOUT JoVE
    OverviewLeadershipBlogJoVE Help Center
    AUTHORS
    Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
    LIBRARIANS
    TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
    RESEARCH
    JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
    EDUCATION
    JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
    Terms & Conditions of Use
    Privacy Policy
    Policies
    Jove
    Visualize
    Contact Us