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PubMed · 15719053

[Laminopathies--one gene, multiple diseases].

Shu-juan Song·Yuan-zhi Zhang·Nanbert Zhong
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Abstract

Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.

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AnimalsCardiomyopathy, DilatedCharcot-Marie-Tooth DiseaseChromosomes, Human, Pair 1Disease Models, AnimalHumansLamin Type ALipodystrophy, Familial PartialMuscular Dystrophy, Emery-DreifussEnglish AbstractJournal ArticleReview

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Shu-juan Song, Yuan-zhi Zhang, Nanbert Zhong. 2005-02-18. [Laminopathies--one gene, multiple diseases].. https://pubmed.ncbi.nlm.nih.gov/15719053/

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