MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

ABSTRACT: Congenital myopathies and congenital muscular dystrophies encompass heterogeneous clinical and genetic groups of disorders characterised by muscle weakness with antenatal or early postnatal onset. These conditions are categorised according to distinctive myopathological features and causative genes. Despite advances in diagnosis through massive parallel sequencing and progress in understanding the underlying pathogenesis, many aspects of these disorders remain poorly understood. MYL1-related congenital myopathy is an ultra-rare and severe condition, associated with a deficiency of essential/alkali light myosin and impaired development of fast-twitch type II muscle fibres. This study aims to advance the understanding of the phenotype and pathogenesis of MYL1-congenital myopathy. We analysed

SUBMITTER: Madrigal I 

PROVIDER: S-EPMC12147433 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature