Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

ABSTRACT:

Objective

ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series.

Methods

We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant.

Results

We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of

SUBMITTER: Donkervoort S 

PROVIDER: S-EPMC10963296 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature