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

ABSTRACT:

Background

Congenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a fatal outcome in the most severe cases but can either be benign or lead to an amelioration even in severe presentations. Muscle biopsy analysis is crucial for the identification of pathognomonic morphological features, such as core areas, nemaline bodies or rods, nuclear centralizations and congenital type 1 fibers disproportion. However, multiple abnormalities in the same muscle can be observed, making more complex the myopathological scenario.

Case presentation

Here, we describ

SUBMITTER: Piga D 

PROVIDER: S-EPMC10944937 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature