Abstract
LMNA gene encodes for lamins A/C, ubiquitous proteins of the nuclear envelope. Lamins A/C are thought to have structural but also essential regulatory roles in various signalization pathways by interaction with transcription factors such as Sterol Regulatory Element Binding Protein 1 (SREBP1). LMNA mutations are responsible for more than 10 different disorders affecting various tissues in isolated or systemic fashion. Among those the LMNA-related congenital muscular dystrophy (L-CMD) is characterized by early onset of muscle weakness and joint contractures.
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