International retrospective natural history study of LMNA-related congenital muscular dystrophy.

ABSTRACT: Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to ident

SUBMITTER: Ben Yaou R 

PROVIDER: S-EPMC8260964 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature