Article
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Neuropathology and applied neurobiology - 1 Jun 2025
Madrigal Irene, Villar-Vera Cristina, Arca Gemma, Expósito-Escudero Jesica, Rodríguez-Revenga Laia, Piolatti-Luna Andres, Muelas Nuria, Vilchez Roger, Ciutad Celdran Maria, Codina Anna, Estévez-Arias Berta, Carrera-Garcia Laura, Ortez Carlos, Rodriguez-Carunchio Leonardo, Sebastiani Giorgia, Azorin Inmaculada, Nascimento Andrés, Jou Cristina, Vilchez Juan Jesus, Natera-de Benito Daniel
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
- Humans
- Muscle, Skeletal
- Myopathies, Structural, Congenital
- Myosin Light Chains