CareLit · DOI-Nachweis · Aktuelle Neurologie
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients
DOI 10.1055/s-2006-953022
Bibliografische Angaben
Nachweis in CareLit
Autor:innenD. Grimm, F. Hanisch, X. Liu, C. Müller-Reible, S. Zierz, M. Deschauer
ZeitschriftAktuelle Neurologie
Ausgabe09/2006
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Aims: Calpain-3 deficiency is the most common cause of autosomal-recessive limb-girdle muscular dystrophy (LGMD2). The 550delA mutation in the CAPN3 gene was frequently identified in patients from Eastern Europe. Methods: A screening for the 550delA mutation was performed in unrelated German patients with LGMD2 (n=98) and unknown hyperCKemia (n=106). Western blot analysis was available in 76 patients with LGMD2 and…
Zitieren
Zitierempfehlung
D. Grimm, F. Hanisch, X. Liu, C. Müller-Reible, S. Zierz, M. Deschauer (2006) Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2006-953022
Mit CareLit weiterarbeiten