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AB091. Analysis of LA2 as a functional candidate gene for Emery Dreifuss muscular dystrophy and dilated cardiomyopathy

Laminopathies are rare genetic disorders caused by mutations in genes encoding lamins or lamin-interacting proteins. LMNA, EDM and to a lower measure the Nesprin genes have been associated with Emery Dreifuss muscular dystrophy (EDMD), characterized by contractures of the Achilles tendons, progressi...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Transl Med
Prif Awduron: Huong, Le Thi Thanh, Braun, Juliane, Pilat, Ursula, Foisner, Roland, Wehnert, Manfred
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: AME Publishing Company 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563443/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB091
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