Article
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
European journal of human genetics : EJHG - 1 Oct 2003
Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter J M, Koenig M
Abstract excerpt
Marinesco-Sjögren syndrome (MSS), first described in 1931, is an autosomal recessive condition characterised by somatic and mental retardation, congenital cataracts and cerebellar ataxia. Progressive myopathy was later reported to be also a cardinal sign of MSS, with myopathic changes on muscle biopsies. Hypergonadotrophic hypogonadism and skeletal deformities related to pronounced hypotonia were also reported....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.