<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum.

ABSTRACT:

Background

Biallelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by proximal muscle weakness with survival into adulthood.

Objective

We report eight patients from four unrelated families with biallelic pathogenic variants in exon 15 of FXR1.

Methods

Whole exome sequencing was used to detect variants in FXR1.

Results

Common clinical features were noted for all patients, which included proximal myopathy, normal serum creatine kinase levels and diffuse muscle atrophy with relative preservation of the quadriceps femoris muscle on muscle imaging. Additi

SUBMITTER: Mroczek M 

PROVIDER: S-EPMC9537361 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature