Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

doi:10.1016/j.nmd.2010.08.007

Article

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Neuromuscular disorders : NMD - 1 Jan 2011

Yis Uluc, Uyanik Gökhan, Heck Pinar Bambul, Smitka Martin, Nobel Hannes, Ebinger Friedrich, Dirik Eray, Feng Lucy, Kurul Semra H, Brocke Katja, Unalp Aycan, Özer Erdener, Cakmakci Handan, Sewry Caroline, Cirak Sebahattin, Muntoni Francesco, Hehr Ute, Morris-Rosendahl Deborah J

Abstract excerpt

Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular...

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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

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