CareLit · DOI-Nachweis · Klinische Neurophysiologie
Matrin3 myopathy: Distal and axial myopathy with pathology of the nucleus and the perinuclear region
DOI 10.1055/s-0030-1251016
Bibliografische Angaben
Nachweis in CareLit
Autor:innenTJ Müller, T Kraya, G Stoltenburg, K Stock, M Deschauer, J Weis, S Zierz
ZeitschriftKlinische Neurophysiologie
Ausgabe03/2010
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Introduction: Recently it was shown, that a mutation in the MATR3 gene causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM) in a North American and in a Bulgarian pedigree. MATR3 encodes Matrin 3, a component of the nuclear matrix. Vocal cord or swallowing dysfunction occurred in most cases of VCPDM. Detailed clinical descriptions or structural data of muscles were not given. Here we report on the…
Zitieren
Zitierempfehlung
TJ Müller, T Kraya, G Stoltenburg, K Stock, M Deschauer, J Weis, S Zierz (2010) Matrin3 myopathy: Distal and axial myopathy with pathology of the nucleus and the perinuclear region. Klinische Neurophysiologie (03). https://doi.org/10.1055/s-0030-1251016
Mit CareLit weiterarbeiten