Article
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Brain : a journal of neurology - 7 Feb 2026
Jacob Maureen, Kölbel Heike, Harrer Philip, Kopajtich Robert, Munot Pinki, Achleitner Melanie T, Badmann Susann, Brugger Melanie, Brunet Theresa, Bonne Gisèle, Codina Marta, Ebner Laura, Eshraghi Peyman, Eyring Katharina, Farhat Ahmad Shah, Feichtinger René G, Graf Elisabeth, Marcé-Grau Anna, Hahn Andreas, Houlden Henry, Karimiani Ehsan Ghayoor, Manel Véronique, Mayerhanser Katharina, Nectoux Juliette, Nelson Isabelle, Phadke Rahul, Prokisch Holger, Sadeghian Saeid, Saparov Alice, Schänzer Anne, Schara-Schmidt Ulrike, Schmidt Julia, Schuler Rahel, Sewry Caroline, Shariati Gholamreza, Slanz Silke, Smirnov Dmitrii, Sukenik-Halevy Rivka, Tajsharghi Homa, Toosi Mehran Beiraghi, Trujillano Laura, Weis Joachim, Wilson Louise C, Yaou Rabah Ben, Zamani Mina, Zech Michael, Zschüntzsch Jana, Kornak Uwe, Goméz-Andrés David, Maroofian Reza, Winkelmann Juliane, Roos Andreas, Distelmaier Felix, Mayr Johannes A, Wagner Matias
Abstract excerpt
The dystonin gene (DST) encodes three major isoforms, DST-a, DST-b and DST-e. Biallelic pathogenic variants in DST have previously been associated with two allelic monogenic disorders: hereditary sensory and autonomic neuropathy type VI (caused by a loss of DST-a) and epidermolysis bullosa simplex 3 (caused by a loss of DST-e). We investigated patients diagnosed with congenital myopathy using exome or genome...
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