Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

(2016) Motoi Kanagawa et al.   Cell Reports

Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane

(2015) T. Yoshida-Moriguchi et al.   GLYCOBIOLOGY

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

(2010) Bung Chan Lim et al.   NEUROMUSCULAR DISORDERS

Fukutingene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient

(2009) Hui Xiong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy

(2009) Jeehun Lee et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

(2008) Motoi Kanagawa et al.   HUMAN MOLECULAR GENETICS