[Muscular dystrophies with dystrophin glycoprotein complex deficit].
Progressive muscular dystrophies with primary or secondary dystrophin glycoprotein complex components' deficit are described. Some variants of limb--girdle and congenital muscular dystrophies as well as Duchenne/Becker muscular dystrophy belong to this group. The structure of dystrophin glycoprotein complex (DGC) which is localised within muscle sarcolemma is presented. Usefulness of the assessment of the particular DGC components is underlined and importance of the resulting prognostic as well as diagnostic implications are stressed.
Dorobek
M
M
Zespołu Badawczo-Leczniczego, Chorób Nerwowo-Mieśniowych, ICMDiK, PAN w Warszawie.
D016189:Dystrophin / Q000172:deficiency*; D015870:Gene Expression / Q000235:genetics; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D009124:Muscle Proteins / Q000172:deficiency; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*
D016189:Dystrophin; D006023:Glycoproteins; D009124:Muscle Proteins