Jove
Visualize
Contact Us
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

Related Experiment Videos

Mitochondrial DNA mutations and pathogenicity

P F Chinnery, D M Turnbull, N Howell

    Journal of Medical Genetics
    |August 27, 1998
    PubMed
    Summary

    No abstract available in PubMed .

    Related Experiment Videos

    Related Concept Videos

    You might also read

    Related Articles

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

    Sort by
    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

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

    The Proceedings of the Nutrition Society·2019
    Same author

    A case-comparison study of pregnant women with mitochondrial disease - what to expect?

    BJOG : an international journal of obstetrics and gynaecology·2019
    Same author

    Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women.

    Experimental gerontology·2018
    Same author

    Mitochondrial disease in pregnancy: a systematic review.

    Obstetric medicine·2016
    Same journal

    Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

    Journal of medical genetics·2026
    Same journal

    Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

    Journal of medical genetics·2026
    Same journal

    Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

    Journal of medical genetics·2026
    Same journal

    Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

    Journal of medical genetics·2026
    Same journal

    Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

    Journal of medical genetics·2026
    Same journal

    Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

    Journal of medical genetics·2026
    See all related articles