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Seminars in Neurology, 1999
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited neuromuscular disorders, with an estimated prevalence of 1:20,000. The disease is autosomal dominant, although 10-30% of cases appear to arise from a de novo mutation. The disease presents with a characteristic pattern of weakness which affects predominantly the face and scapular ...
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Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited neuromuscular disorders, with an estimated prevalence of 1:20,000. The disease is autosomal dominant, although 10-30% of cases appear to arise from a de novo mutation. The disease presents with a characteristic pattern of weakness which affects predominantly the face and scapular ...
openaire +2 more sources
2018
The pattern dystrophies of the retinal pigment epithelium (RPE) include a group of disorders: Butterfly-type pattern dystrophy (Figs. 17.1, 17.2, 17.3, 17.4 and 17.5) Adult-onset foveomacular vitelliform dystrophy Sjögren's reticular-type pattern dystrophy Fundus pulverulentus.
Stephen H, Tsang, Tarun, Sharma
openaire +2 more sources
The pattern dystrophies of the retinal pigment epithelium (RPE) include a group of disorders: Butterfly-type pattern dystrophy (Figs. 17.1, 17.2, 17.3, 17.4 and 17.5) Adult-onset foveomacular vitelliform dystrophy Sjögren's reticular-type pattern dystrophy Fundus pulverulentus.
Stephen H, Tsang, Tarun, Sharma
openaire +2 more sources

