Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era - Bui, Mai Thao; Fernández-Eulate, Gorka; Evangelista, Teresinha; Lacène, Emmanuelle; Brochier, Guy; Labasse, Clémence; Madelaine, Angéline; Chanut, Anaïs; Beuvin, Maud; Borsato-Levy, Favienne; Biancalana, Valérie; Barcia, Giulia; et al. (Acta neuropathologica communications, 2024)
Keywords: Biomedical and Life Sciences; Biomedicine; Biopsy - classification; Biopsy - statistics & numerical data; Care and treatment; Congenital myopathy; Cross-Sectional Studies; Diagnosis, Differential; Electron microscopy; Female; Genes; Genetic disorders; Genetics; Human genetics; Human health and pathology; Humans; Infant; Infant, Newborn; Infants (Newborn); Life Sciences; Male; Medical research; Medicine, Experimental; Metabolic myopathy; Microscopy, Electron - statistics & numerical data; Muscle biopsy; Muscle, Skeletal - pathology; Neurology; Neuromuscular Diseases - classification; Neuromuscular Diseases - diagnosis; Neuromuscular disorder; Neurons and Cognition; Neurosciences; NMD; Pathology; Pediatrics; Retrospective Studies; Sequence Analysis - methods; Sequence Analysis - statistics & numerical data; Tissues and Organs; Congenital myopathy; NMD; Electron microscopy; Muscle biopsy; Metabolic myopathy; Neuromuscular disorder