Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation?
| Autor: | Fabio Spanu, Luca Saba |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
musculoskeletal diseases
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Emerin Case Report Pericallosal lipoma Emery-dreifuss-distrophy 030218 nuclear medicine & medical imaging 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Adipocyte X-Linked Emery-Dreifuss Muscular Dystrophy otorhinolaryngologic diseases medicine Muscular dystrophy business.industry Adipocyte differentiation Lipoma medicine.disease Familiar emery dreifuss muscular dystrophy chemistry business 030217 neurology & neurosurgery |
| Zdroj: | World Journal of Radiology |
| ISSN: | 1949-8470 |
| Popis: | Emery dreifuss muscular dystrophy (EDMD) is a rare genetic syndrome consisting of tendon retractions, progressive muscle atrophy and cardiac involvement. We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy. To date, EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions. Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation. |
| Databáze: | OpenAIRE |
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