A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12
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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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Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant form of the disease, but only mutations in the DNA polymerase gamma gene are known to cause autosomal recessive PEO ...
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ژورنال
عنوان ژورنال: Brain
سال: 2004
ISSN: 1460-2156
DOI: 10.1093/brain/awh338