Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.
Ferran SeguíLidia Gonzalez-QueredaAurora SanchezAna Matas-GarcíaGloria GarrabouMaria José RodriguezPia GallanoJosep Maria GrauJosé César MilisendaPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)
ANO5-related muscular dystrophy is a heterogeneous disease with different clinical phenotypes as well as different histological patterns, which may even mimic a mitochondrial myopathy. The results of this study provide further knowledge of the clinical, histological, and pathological features related to ANO5 mutations.