The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

ABSTRACT:

Objective

To clarify the prevalence, long-term natural history, and severity determinants of SEPN1-related myopathy (SEPN1-RM), we analyzed a large international case series.

Methods

Retrospective clinical, histologic, and genetic analysis of 132 pediatric and adult patients (2-58 years) followed up for several decades.

Results

The clinical phenotype was marked by severe axial muscle weakness, spinal rigidity, and scoliosis (86.1%, from 8.9 ± 4 years), with relatively preserved limb strength and previously unreported ophthalmoparesis in severe cases. All patients developed respiratory failure (from 10.1±6 years), 81.7% requiring ventilation while ambulant. Histopathologically, 79 muscle biopsies showed large variability, partly determined by site of biopsy and

SUBMITTER: Villar-Quiles RN 

PROVIDER: S-EPMC7713742 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature