Article
ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.
PloS one - 9 Feb 2010
Miller Gaynor, Neilan Monica, Chia Ruth, Gheryani Nabeia, Holt Natalie, Charbit Annabelle, Wells Sara, Tucci Valter, Lalanne Zuzanne, Denny Paul, Fisher Elizabeth M C, Cheeseman Michael, Askew Graham N, Dear T Neil
Abstract excerpt
BACKGROUND: Fibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin. Marfan's syndrome and congenital contractural arachnodactyly (CCA) result from dominant mutations in the genes FBN1 and FBN2 respectively. Patients with both conditions often present with specific muscle atrophy or weakness, yet this...
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