| Issue |
Med Sci (Paris)
Volume 37, Novembre 2021
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 40 - 43 | |
| Section | Cas clinique | |
| DOI | https://doi.org/10.1051/medsci/2021191 | |
| Published online | 08 December 2021 | |
Dystrophie musculaire liée à des mutations du gène JAG2
L’importance du diagnostic différentiel
JAG2-related muscular dystrophy: When differential diagnosis matters
1
Centre de référence des maladies neuromusculaires Nord/Est/Île-de-France, service de neuromyologie, APHP, Institut de Myologie, Paris, France
2
Sorbonne Université - Inserm, Centre de Recherche en Myologie, Paris, France
3
Unité de Morphologie Neuromusculaire, Institut de Myologie, APHP, Sorbonne Université, Paris, France
*
rocionur.villarquiles@aphp.fr
Abstract
JAG2 has recently been involved in autosomal recessive forms of muscular dystrophy as illustrated in this clinical vignette. In many ways, this disease can mimick a COL6-related retractile myopathy including at the imaging level.
© 2021 médecine/sciences – Inserm
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