Publication | Open Access

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Mitochondrial MyopathyMendelian DisorderClassical PhenotypeMultiminicore DiseaseGeneticsSelenoprotein N GeneGenetic DisorderPathologyDegenerative DiseaseDisease Gene IdentificationMedicineNeuromusculoskeletal Disorder