POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Kazuhiro Kobayashi, Yutaka Nakahori, Masashi Miyake et al. · Nature · 1998 · 804 citations

Medicine, Neurology, Neuromuscular Disorders +5

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1

Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya et al. · Developmental Cell · 2001 · 710 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 688 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini et al. · The American Journal of Human Genetics · 2001 · 598 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17