Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Luísa Panadés-de OliveiraLaura Bermejo-GuerreroCarlos Pablo de Fuenmayor-Fernández de la HozDiana Cantero MontenegroAurelio Hernández LainPilar MartíNuria MuelasJuan J VilchezCristina Domínguez-GonzálezPublished in: Journal of neurology (2020)
Recessive mutations in ANO5 are a frequent cause of undiagnosed asymptomatic/paucisymptomatic hyperCKemia. Patients with an apparent indolent phenotype may show muscle involvement in complementary tests (muscle biopsy and imaging), which may progress over time. Awareness of anoctaminopathy as the cause of nonspecific muscular complaints or of isolated hyperCKemia is essential to correctly diagnose affected patients.