Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by deleterious SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogeneous and largely remain to be elucidated. In a Bulgarian family affected by autosomal-dominant proximal SMA, we p...

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Bibliographische Detailangaben
Hauptverfasser: Peeters, Kristien, Litvinenko, Ivan, Asselbergh, Bob, Almeida-Souza, Leonardo, Chamova, Teodora, Geuens, Thomas, Ydens, Elke, Zimoń, Magdalena, Irobi, Joy, De Vriendt, Els, De Winter, Vicky, Ooms, Tinne, Timmerman, Vincent, Tournev, Ivailo, Jordanova, Albena
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2013
Schlagworte:
Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675262/
https://ncbi.nlm.nih.gov/pubmed/23664119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.013
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