Clinical and molecular findings in a cohort of ANO5-related myopathy.
André Macedo Serafim da SilvaAntônio R Coimbra-NetoPaulo Victor S SouzaPablo B WincklerMarcus V M GonçalvesEduardo B U CavalcantiAlzira A D S CarvalhoCláudia F D R SobreiraClara G CameloRodrigo D H MendonçaEduardo D P EstephanUmbertina C ReedMarcela C Machado-CostaMario E T Dourado-JuniorVanessa C PereiraMarcelo M CruzeiroPaulo V P HelitoLaís U AivazoglouLeonardo V D CamargoHudson H GomesAmaro J S D CamargoWladimir B V D R PintoBruno M L BadiaLuiz H LibardiMario T YanagiuraAcary S B OliveiraAnamarli NucciJonas A M SauteMarcondes C França-JuniorEdmar ZanoteliPublished in: Annals of clinical and translational neurology (2019)
We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.