Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.

Abstract excerpt

Mutations in the lamin A/C ( LMNA) gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope proteins cause clinically overlapping disorders. The majority of mutations are dominant single amino acid changes (toxic protein produced by the single mutant gene), and patients...

Topics

• Alleles
• Gene Expression Regulation, Developmental
• Genetic Heterogeneity
• Humans
• Lamin Type A
• Mutation
• Phenotype