SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation

Background: Homozygous mutations in lamin A/C (LMNA) gene are extremely rare and have been reported to cause mandibuloacral dysplasia type A, Emery-Dreifuss muscular dystrophy-3, Charcot-Marie-Tooth axonal neuropathy type 2B1, progeroid syndrome and severe familial partial lipodystrophy. We...

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Detalles Bibliográficos
Autores principales: Patni, Nivedita, Hatab, Sarah, Xing, Chao, Quittner, Claudia, Garg, Abhimanyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Cardiovascular Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552055/
http://dx.doi.org/10.1210/js.2019-SAT-087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552055/
http://dx.doi.org/10.1210/js.2019-SAT-087

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