Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower...

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Опубликовано в: :Eur J Hum Genet
Главные авторы: Storbeck, Markus, Horsberg Eriksen, Beate, Unger, Andreas, Hölker, Irmgard, Aukrust, Ingvild, Martínez-Carrera, Lilian A, Linke, Wolfgang A, Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar, Wirth, Brunhilde
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558181/
https://ncbi.nlm.nih.gov/pubmed/28635954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.98
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