Abstract:
:A-type laminopathies are a group of diseases resulting from mutations in the intermediate filament proteins lamin A and C (both encoded by the LMNA gene), but for which the pathogenic mechanisms are little understood. In some laminopathies, there is a good correlation between the presence of a specific LMNA mutation and the disease diagnosed. In others however, many different mutations can give rise to the same clinical condition, even though the mutations may be distributed throughout one, or more, of the three functionally distinct protein domains of lamin A/C. Conversely, certain mutations can cause multiple laminopathies, with related patients carrying an identical mutation even having separate diseases, often affecting different tissues. Therefore clarifying genotype-phenotype links may provide important insights into both disease penetrance and mechanism. In the present paper, we review recent developments in genotype-phenotype correlations in laminopathies and discuss the factors that could influence pathology.
journal_name
Biochem Soc Transjournal_title
Biochemical Society transactionsauthors
Scharner J,Gnocchi VF,Ellis JA,Zammit PSdoi
10.1042/BST0380257subject
Has Abstractpub_date
2010-02-01 00:00:00pages
257-62issue
Pt 1eissn
0300-5127issn
1470-8752pii
BST0380257journal_volume
38pub_type
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