Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
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چکیده
منابع مشابه
Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectr...
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INTRODUCTION HTLV-1 infection is endemic in Japan, Caribbean, Africa, and South America. It is transmitted from mother to child, sexual contact, blood transfusions, or sharing needles. Tropical Spastic paraparesis (TSP) is a chronic degenerative neurological disease associated with this infection. It results from a spinal cord symmetrical degeneration at the thoracic level and is characterized ...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2014
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2014.09.006