médecine/sciences 2021 vol.37: Articles
Voici les éléments 7-9 de 259
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Les neuropathies héréditaires associées au gène SORD
(EDP Sciences, 2021)Mutations in the SORD gene have recently been identified as a cause of autosomal Charcot-Marie-Tooth disease as well as the underlying defect in some cases of hereditary distal ... -
Dystrophie musculaire liée à des mutations du gène JAG2 : L’importance du diagnostic différentiel
(EDP Sciences, 2021)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.