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Dusl, M.* ; Moreno, T.* ; Munell, F.* ; Macaya, A.* ; Gratacòs, M.* ; Abicht, A.* ; Strom, T.M. ; Lochmüller, H.* ; Senderek, J.*

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J. Neurol. 266, 1107-1112 (2019)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular junction. More recently, biallelic COL13A1 loss-of-function mutations were identified in three patients with congenital myasthenic syndrome (CMS), a rare inherited condition with defective neuromuscular transmission, causing abnormal fatigability and fluctuating muscle weakness and often successfully treated with acetylcholinesterase inhibitors. Here we report six additional CMS patients from three unrelated families with previously unreported homozygous COL13A1 loss-of-function mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs). The phenotype of our cases was similar to the previously reported patients including respiratory distress and severe dysphagia at birth that often resolved or improved in the first days or weeks of life. All individuals had prominent eyelid ptosis with only minor ophthalmoparesis as well as generalized muscle weakness, predominantly affecting facial, bulbar, respiratory and axial muscles. Response to acetylcholinesterase inhibitor treatment was generally negative while salbutamol proved beneficial. Our data further support the causality of COL13A1 variants for CMS and suggest that this type of CMS might be clinically homogenous and requires alternative pharmacological therapy.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Col13a1 ; Collagen Type Xiii Alpha 1 Chain ; Autosomal Recessive ; Congenital Myasthenic Syndrome ; Neuromuscular Junction; Pain
ISSN (print) / ISBN 0340-5354
e-ISSN 1432-1459
Zeitschrift Journal of Neurology
Quellenangaben Band: 266, Heft: 5, Seiten: 1107-1112 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort Tiergartenstrasse 17, D-69121 Heidelberg, Germany
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)