Litcius/Paper detail

A review of major causative genes in congenital myopathies

Masashi Ogasawara, Ichizo Nishino

2022Journal of Human Genetics43 citationsDOI

Topics & Concepts

Congenital myopathyNemaline myopathyRYR1Central core diseaseMyopathyMedicineGenetic heterogeneityGeneGeneticsBiologyPathologyPhenotypeMuscle biopsyBiopsyRyanodine receptorIntracellularCardiomyopathy and Myosin StudiesNuclear Structure and FunctionCellular transport and secretion