Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

doi:10.1093/brain/awaa418

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Article

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Brain : a journal of neurology - 3 Mar 2021

Deschauer Marcus, Hengel Holger, Rupprich Katrin, Kreiß Martina, Schlotter-Weigel Beate, Grimmel Mona, Admard Jakob, Schneider Ilka, Alhaddad Bader, Gazou Anastasia, Sturm Marc, Vorgerd Matthias, Balousha Ghassan, Balousha Osama, Falna Mohammed, Kirschke Jan S, Kornblum Cornelia, Jordan Berit, Kraya Torsten, Strom Tim M, Weis Joachim, Schöls Ludger, Schara Ulrike, Zierz Stephan, Riess Olaf, Meitinger Thomas, Haack Tobias B

Abstract excerpt

The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and peripheral nerve. It interacts with collagen VI and perlecan, two proteins that are affected in hereditary neuromuscular disorders. Lack of VWA1 is known to compromise peripheral nerves in a Vwa1 knock-out mouse model. Exome sequencing led us to identify bi-allelic loss of function...

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PMID: 33459760
DOI: 10.1093/brain/awaa418

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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