Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

ABSTRACT:

Objective

To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.

Methods

Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. A yeast complementation assay was used to determine the biochemical consequences of the genetic variants.

Results

We identified four patients with biallelic PYROXD1 variants. Three patients, who had symptom onset in their 20s or 30s, were homozygous for the previously described p.Asn155Ser. The fourth patient, with symptom onset at ag

SUBMITTER: Sainio MT 

PROVIDER: S-EPMC6373352 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature