Copy number variation of LINGO1 in familial dystonic tremor
نویسندگان
چکیده
منابع مشابه
Copy Number Variation in Familial Parkinson Disease
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have eit...
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A strong association between dystonia and tremor has been known for more than a century. Two forms of tremor in dystonia are currently recognized: 1) dystonic tremor, which is tremor produced by dystonic muscle contraction and 2) tremor associated with dystonia, which is tremor in a body part that is not dystonic, but there is dystonia elsewhere. Both forms of tremor in dystonia frequently rese...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2019
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000307