CareLit · DOI-Nachweis · Aktuelle Neurologie
Broad phenotypic spectrum of neuromuscular disorders associated with defective O-glycosylation of alpha-dystroglycan
DOI 10.1055/s-2007-987778
Bibliografische Angaben
Nachweis in CareLit
Autor:innenU Hehr, G Uyanik, C Gross, G Schuierer, A Bohring, M Cohen, B Oehl-Jaschkowitz, L Bird, I Baric, MC Walter, D Mowat, U Bogdahn, H Lochmueller, H Topaloglu, J Winkler
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Aims: Defects in O-glycosylation of alpha-dystroglycan result in a group of autosomal recessive disorders with congenital muscular dystrophy (CMD) and brain and/or eye abnormalities. Muscle-eye-brain disease (MEB) is characterized by early onset muscular hypotonia, severely compromised motor development and mental retardation. MR imaging reveals a lissencephaly type II with hypoplasia of brain stem and cerebellum. M…
Zitieren
Zitierempfehlung
U Hehr, G Uyanik, C Gross, G Schuierer, A Bohring, M Cohen, B Oehl-Jaschkowitz, L Bird, I Baric, MC Walter, D Mowat, U Bogdahn, H Lochmueller, H Topaloglu, J Winkler (2007) Broad phenotypic spectrum of neuromuscular disorders associated with defective O-glycosylation of alpha-dystroglycan. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987778
Mit CareLit weiterarbeiten