Associated Papers
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Ismail S et al.
Gene, 2014
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
Costa C et al.
Neuromuscular Disorders : Nmd, 2013
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
Tachikawa M et al.
The Journal of Biological Chemistry, 2012
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U et al.
Neuromuscular Disorders : Nmd, 2011
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S et al.
Neuromuscular Disorders : Nmd, 2009
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