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

References

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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, The American Journal of Human Genetics ChromatinDevelopmental BiologyMendelian DisorderCell DivisionCytogenetics	2000	162
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, Muscle & Nerve	1995	150
Epilepsy and mental retardation in a subset of early onset 4q35‐facioscapulohumeral muscular dystrophy Masanori Funakoshi, Kanako Goto, Kiichi Arahata Neurology	1998	117
Coats' disease and muscular dystrophy. Small Rg PubMed Rare DiseasesMusculoskeletal DisordersDegenerative DiseaseCommon DiseasesMedicine	1968	87
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. Meena Upadhyaya, J. Maynard, Mark T. Rogers, Journal of Medical Genetics	1997	68
Two Cases of Chromosome 4q35-Linked Early Onset Facioscapulohumeral Muscular Dystrophy with Mental Retardation and Epilepsy K. Miura, Toshiyuki Kumagai, Akiko Matsumoto, Neuropediatrics	1998	64
Inflammatory facioscapulohumeral muscular dystrophy and coats syndrome John D. Wulff, James T. Lin, John J. Kepes Annals of Neurology Facioscapulohumeral Muscular DystrophySlow Inflammatory MyopathyMuscle BiopsiesDegenerative DiseaseCommon Diseases	1982	63
Facioscapulohumeral Dystrophy Associated with Mental Retardation, Hearing Loss, and Tortuosity of Retinal Arterioles Tetsuo Matsuzaka, Norio Sakuragawa, Kenjiro Terasawa, Journal of Child Neurology Thumb HypoplasiaRare DiseasesRetinal ArteriolesFacioscapulohumeral Muscular DystrophyMendelian Disorder	1986	33
Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease Giuliana Galluzzi, Giancarlo Deidda, S. Cacurri, Neuromuscular Disorders Rare DiseasesFacioscapulohumeral Muscular DystrophyMendelian DisorderCorrect Genetic AdviceGenetic Disorder	1999	27

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