MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12
نویسندگان
چکیده
منابع مشابه
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
We describe a new autosomal recessive myopathy of early onset and very slow progression distinguished by the prominent external ophthalmoplegia in 16 subjects of eight families from a large and highly inbred Arab community. Characteristic clinical features include mild facial and skeletal muscle weakness and atrophy more pronounced proximally in the upper limbs, facial dysmorphism and scoliosis...
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D1IFER.ENT aluthors have reported several cases of congenital extern-al ophtlhcllmioplegia, some of which were myopic. No one, how everl, hlas l)aid special attention to tlis occurrence. Familial externial ophtlhalmiioplegila has been reported as inherited in two forms: dominiianlt and recessive. The fact thalt all our cases witll oplhtllmllrnoplegia w-ere myopic, the spet itil form of transmis...
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X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive cl...
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ژورنال
عنوان ژورنال: Brain
سال: 2013
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/aws365