Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 683 citations

Medicine, Genetics, Molecular Genetics +11

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

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Life Sciences, Genetics, Molecular Genetics +7