Naslov
Xp21 deletion involving Duchenne mmuscular dystrophy and glycerol kinase loci

Autori
Barić, Ivo ; Sarnavka, Vladimir ; Lasan, Ružica ; Fumić, Ksenija ; Maradin, Miljenka ; Begović, Davor

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Mjesto i datum
,

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Xp21 deletion; Duchenne muscular dystophy; glycerol kinase loci

Sažetak
Xp21 contiguous gene syndrome involves, to a variable extent, mostly congenital adrenal hypoplasia, duchenne muscular dystrophy and glycerol kkinase loci.Our patient belongs to a smaller subgroup of patients with only DMD and GK involved.Reporting tis case we would like to stress the importance of checking for glyceroluria in DMD patients. Early dignosis can prevent glycerol related metabolic crises and alow better insight of molecular pathology of these patients.

Izvorni jezik
Engleski

Znanstvena područja
Dentalna medicina

POVEZANOST RADA