Article
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
Parkinsonism & related disorders - 1 Oct 2016
Kirola Laxmi, Behari Madhuri, Shishir Chandan, Thelma B K
Abstract excerpt
BACKGROUND: A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in other populations still remains unidentified. METHODS: An ARJP family with two affected siblings...
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