A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex

Neuromuscular Disorders

Volumn 17, Issue 4, 2007, Pages 285-289

  MacLeod, Heather ^a   Pytel, Peter ^a   Wollmann, Robert ^a   Chelmicka Schorr, Ewa ^a   Silver, Kenneth ^a   Anderson, Rebecca Brown ^a   Waggoner, Darrel ^a   McNally, Elizabeth M ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Congenital muscular dystrophy; Dystroglycan; FKRP; Founder mutation; Sarcoglycan

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; DYSTROGLYCAN; DYSTROPHIN ASSOCIATED PROTEIN COMPLEX; FUKUTIN RELATED PROTEIN; GLYCOSYLTRANSFERASE; SARCOGLYCAN;

ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GLYCOSYLATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NEWBORN; PRIORITY JOURNAL;

ASPARAGINE; ASPARTIC ACID; CHILD, PRESCHOOL; DYSTROPHIN; FEMALE; GLYCOPROTEINS; HUMANS; MUSCULAR DYSTROPHIES; MUTATION; PROTEINS;

EID: 34047154010     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.01.005     Document Type: Article

References (7)

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2. Brockington M., Blake D.J., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69 (2001) 1198-1209
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