Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

ConclusionOur case expands the repertoire of molecular and pathological features observed in actinopathies. We highlight the value of ultrastructural examination to investigate the abnormalities detected at the histological level. We also emphasized the use of expanded gene panels in the molecular analysis of neuromuscular patients, especially for those ones presenting multiple bioptic alterations.
Source: Frontiers in Neurology - Category: Neurology Source Type: research