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Novel Subtype of Congenital Generalized Lipodystrophy Associated With Muscular Weakness and Cervical Spine Instability
Congenital generalized lipodystrophy (CGL) is a rare auto-somal recessive disorder characterized by extreme paucity of adipose tissue from birth, and early onset of metabolic complications related to insulin resistance. Mutations in three genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2716114/ https://ncbi.nlm.nih.gov/pubmed/18698612 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32457 |
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