Muscular dystrophies due to defective glycosylation of dystroglycan

Acta Myologica

Volumn 26, Issue 3, 2007, Pages 129-135

  Muntoni, Francesco ^a,c   Brockington, M ^a   Godfrey, C ^a   Ackroyd, M ^a   Robb, S ^a   Manzur, A ^a   Kinali, M ^a   Mercuri, E ^a   Kaluarachchi, M ^a   Feng, L ^a   Jimenez Mallebrera, C ^a   Clement, E ^a   Torelli, S ^a   Sewry, C A ^a,b   Brown, S C ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Alpha dystroglycan; Glycoslyation; Glycosyltransferases; Muscular dystrophy; Neuronal migration

Indexed keywords

AGRIN; ALPHA DYSTROGLYCAN; FUKUTIN; FUKUTIN RELATED PROTEIN; LAMININ; MEMBRANE PROTEIN; PERLECAN; PROTEIN; PROTEIN LARGE; PROTEIN O MANNOSE 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE 1; PROTEIN O MANNOSYL TRANSFERASE 1; PROTEIN O MANNOSYL TRANSFERASE 2;

EXTRACELLULAR MATRIX; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; PATHOGENESIS; PHENOTYPE; PROTEIN GLYCOSYLATION; REVIEW; WALKER WARBURG SYNDROME;

DNA; DYSTROGLYCANS; GLYCOSYLATION; HUMANS; MUSCULAR DYSTROPHIES; MUTATION;

EID: 43449084043     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (70)