Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

Melis Sahinoz, , Ashley Cuttitta, Graham Brady, Amit Rupani, , Marwan Tayeh, , Meredith Riebschleger, Sandra Camelo-Piragua, Jeffrey Innis, , Daniel Michele & Elif Oral
Abstract Background Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. The p.T10I LMNA variant is associated with a phenotype of generalized lipodystrophy that has also been called atypical progeroid syndrome. Case presentation A previously...
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