Concepedia

Coats syndrome in facioscapulohumeral dystrophy type 1

Jeffrey Statland, Sabrina Sacconi, Constantine Farmakidis, Colleen M. Donlin‐Smith, Mina Chung, Rabi Tawil

Neurology · 2013 · 81 citations · 7 references

DOIFull text

Open access

Abstract

Coats syndrome is a rare extramuscular complication of FSHD1 associated with large D4Z4 contractions. Closer surveillance for retinal complications is warranted in patients with D4Z4 fragments ≤15 kb.

References

7

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

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

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

Rabi Tawil, Silvère M. van der Maarel, George W. Padberg et al. · Neuromuscular Disorders · 2010 · 96 citations · Full text

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Facioscapulohumeral Muscular Dystrophy: Clinical Diversity and Genetic Abnormalities in Japanese Patients.

Masanori Nakagawa, Toshio Matsuzaki, Itsuro Higuchi et al. · Internal Medicine · 1997 · 35 citations · Full text

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

Laurence A. Bindoff, Nanette Mjellem, Kristian Sommerfelt et al. · Neuromuscular Disorders · 2006 · 33 citations

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