Associated Papers
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F et al.
International Journal of Molecular Sciences, 2023
Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy.
Villarreal-mMolina MT et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2020
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.
Marques-da-Silva D et al.
Journal of Inherited Metabolic Disease, 2017
Fukutin gene mutations that cause left ventricular noncompaction.
Amiya E et al.
International Journal of Cardiology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Ismail S et al.
Gene, 2014
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 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
[Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report].
Kondo Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2010
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S et al.
Neuromuscular Disorders : Nmd, 2009
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
Kanagawa M et al.
Human Molecular Genetics, 2009
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
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
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
Murakami T et al.
Annals of Neurology, 2006