Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

The exceptionally large SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes different nesprin-1 isoforms, which are differentially expressed in striated muscle and in cerebellar and cerebral neurons. Nesprin-1 isoforms can function in cytoskeletal, nuclear, and vesicle anchori...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Baumann, Matthias, Steichen-Gersdorf, Elisabeth, Krabichler, Birgit, Petersen, Britt-Sabina, Weber, Ulrike, Schmidt, Wolfgang M, Zschocke, Johannes, Müller, Thomas, Bittner, Reginald E, Janecke, Andreas R
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5255944/
https://ncbi.nlm.nih.gov/pubmed/27782104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.144
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