Clinical features of mitochrondrial diseases: A retrospective study in adult patients with muscle symptoms

  1. Estevez, Daniel Garcia 1
  1. 1 Complexo Hospitalario Universitario de Ourense
    info

    Complexo Hospitalario Universitario de Ourense

    Orense, España

    ROR https://ror.org/04f1y4a64

Revista:
Journal of the Neurological Sciences

ISSN: 0022-510X

Año de publicación: 2023

Volumen: 455

Páginas: 121688

Tipo: Artículo

DOI: 10.1016/J.JNS.2023.121688 GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Journal of the Neurological Sciences

Resumen

Methods An observational-retrospective study was carried out, identifying the patients whohad a diagnosis of mitochondrial myopathy and who had a muscle biopsy that showed anincrease in mitochondrial proliferation and/or the presence of ragged-red fibers. All patientsunderwent the study of the activity of the respiratory chain and genetic analysis ofmitochondrial DNA in the biopsy sample. The prevalence date was 30/JUN/2022. ResultsEighteen patients with mitochondrial myopathy have been reported. The prevalence in the