Laminopathies: clinical presentations and management
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چکیده
منابع مشابه
Laminopathies: clinical presentations and management
The number of laminopathies is large, and the variability is equally wide. OMIM mentions 10 different entities, but there are several additional reports of individuals with a lamin A/C mutation who have phenotypes that are still at variance of these. This variability can be explained in two ways. One is the widespread dissemination of the lamin A/C protein within our bodies and indeed within in...
متن کاملClinical and genetic heterogeneity in laminopathies.
Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heteroge...
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The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene (MIM*150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by utilization of an alternative splice site in exon 10. The human LMNA gene was identified in 1986 but it was another 13 years before it was found to be the causative gene for a disease, namely Emery Dreifuss muscular dystrophy. S...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2015
ISSN: 1750-1172
DOI: 10.1186/1750-1172-10-s2-o23