| Issue |
Med Sci (Paris)
Volume 38, Decembre 2022
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 17 - 28 | |
| Section | Mises au point | |
| DOI | https://doi.org/10.1051/medsci/2022173 | |
| Published online | 16 January 2023 | |
Biopsie musculaire en période néonatale et périnatale
Une évaluation rétrospective de 535 cas
Muscle biopsy in the neonatal and perinatal period: a retrospective study of 535 cases
Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, 75013, Paris, France
*
nb.romero@institut-myologie.org
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.
© 2022 médecine/sciences – Inserm
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