Associated Papers
The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction.
Wilson DGS et al.
Communications Biology, 2022
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
Cotarelo RP et al.
Clinical Genetics, 2008
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Matsumoto H et al.
Neuromuscular Disorders : Nmd, 2005
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
de Bernabé DB et al.
Journal of Medical Genetics, 2003
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).
Kondo-Iida E et al.
Human Molecular Genetics, 1999
[Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)].
Toda T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997
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