Video Experimental Relacionado

Updated: Sep 10, 2025

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

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Cardiomiopatía no isquémica en la enfermedad mitocondrial de inicio PPA2 en adultos

Emilie Théberge1, Jillianne Code2, John K Khoo3

  • 1Faculty of Medicine, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

JACC. Case reports
|August 22, 2025
PubMed
Resumen

Las pruebas genéticas revelaron que las mutaciones del gen PPA2 causaron cardiomiopatía no isquémica (NICM) en un paciente de 48 años, el caso documentado más antiguo de deficiencia de PPA2. El análisis genético temprano es crucial para diagnosticar NICM y evitar la etiqueta "idiopática".

Palabras clave:
PPA2 y PPA2MiocardiopatíaEnfermedad mitocondrialMonogénico

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