Clinical features of mitochrondrial diseases: A retrospective study in adult patients with muscle symptoms
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Complexo Hospitalario Universitario de Ourense
info
ISSN: 0022-510X
Ano de publicación: 2023
Volume: 455
Páxinas: 121688
Tipo: Artigo
Outras publicacións en: Journal of the Neurological Sciences
Resumo
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