Biopsie musculaire en période néonatale et périnatale : Une évaluation rétrospective de 535 cas

Abstract

Neuromuscular diseases with neonatal or perinatal onset are usually very severe. Their diagnosis requires rigorous studies in order to determine the cause of the disease and thus help to establish the vital prognosis. Neonatal muscle biopsy studies are driven by the extreme severity of the clinical picture. The aim of this analysis is to search for or validate a precise diagnosis and etiology. Numerous genes are at the origin of these severe neonatal myopathies, for some of them anomalies of a specific gene could be identified.