Naslov
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

Autori
Walter, M.C. ; Petersen, J.A. ; Stucka, R. ; Fischer, D. ; Schroder, R. ; Vorgerd, M. ; Schroers, A. ; Schreiber, H. ; Hanemann, C.O. ; Knirsch, U. ; Rosenbohm, A. ; Huebner, A. ; Barisic, N. ; Horvath, R. ; Komoly, S. ; Reilich, P. ; Muller-Felber, W. ; Pongratz, D. ; Muller, J.S. ; Auerswald, E.A. ; Lochmuller, H.

Izvornik
Journal of medical genetics (0022-2593) 41 (2004), 4;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
common mutation Leu276Ile; 826C>A change; FKRP; LGMD2I

Sažetak
Limb-girdle muscular dystrophies (LGMD) and congenital muscular dystrophies (MDC) represent two heterogeneous groups of genetic diseases differing in clinical severity and age of onset.1-6 Mutations in the LAMA2 gene can result in either MDC or, more rarely, LGMD.7 Laminin 2 forms a link between -dystroglycan and the basal lamina. -Dystroglycan is a heavily glycosylated peripheral membrane component of the dystrophin-associated-glycoprotein complex (DAG), whilst ß-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. Dystroglycan therefore plays a pivotal role in linking the actin-associated cytoskeleton to components of the extracellular matrix, and disruption of this axis is associated with several forms of muscular dystrophy.8 Recently, abnormalities of -dystroglycan glycosylation have been reported for several forms of MDC and for LGMD2I.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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