Severe fascioscapulohumeral muscular dystrophy presenting with Coats’ disease and mental retardation

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1992 · 662 citations

Chromatin, Mendelian Disorder, Genetic Disorder +6

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

Silvère M. van der Maarel, Giancarlo Deidda, Richard J.L.F. Lemmers et al. · The American Journal of Human Genetics · 2000 · 162 citations · Full text

Chromatin, Developmental Biology, Mendelian Disorder +12

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

George W. Padberg, Oebele F. Brouwer, R. J. W. De Keizer et al. · Muscle & Nerve · 1995 · 150 citations

Epilepsy and mental retardation in a subset of early onset 4q35‐facioscapulohumeral muscular dystrophy

Masanori Funakoshi, Kanako Goto, Kiichi Arahata · Neurology · 1998 · 117 citations

Coats' disease and muscular dystrophy.

Small Rg · PubMed · 1968 · 87 citations

Rare Diseases, Musculoskeletal Disorders, Degenerative Disease +4