Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Deschauer, M; Hengel, H; Rupprich, K; Kreiss, M; Schlotter-Weigel, B; Grimmel, M; Admard, J; Schneider, I; Alhaddad, B; Gazou, A; Sturm, M; Vorgerd, M; Balousha, G; Balousha, O; Falna, M; Kirschke, JS; Kornblum, C; Jordan, B; Kraya, T; Strom, TM; Weis, J; Schols, L; Schara, U; Zierz, S; Riess, O; Meitinger, T; Haack, TB

Deschauer, M (corresponding author), Tech Univ Munich, Sch Med, Dept Neurol, Ismaninger Str 22, D-81675 Munich, Germany.

BRAIN, 2021; 144 (): 574

Abstract

The von Willebrand Factor A domain containing 1 protein, encoded by VWA1, is an extracellular matrix protein expressed in muscle and peripheral nerve.......

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