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Article

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

European journal of human genetics : EJHG - 1 Feb 2017

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

Abstract excerpt

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 anchoring. SYNE1 variants have been associated with a spectrum of neurological and neuromuscular disease. Homozygosity...

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Identifiers

PMID: 27782104
DOI: 10.1038/ejhg.2016.144
PMCID: PMC5255944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.PMID 27782104Read ↗

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