]> http://mcrj.edwiserinternational.com/rss-feed.php Medical-Case-Reports-Journal: VOLUME Volume 6 ISSUE Issue 2, Jul-Dec 2023 en-us editor@edwiserinternational.com editor@edwiserinternational.com editor@edwiserinternational.com http://mcrj.edwiserinternational.com/rss-feed.php http://mcrj.edwiserinternational.com/img/logo1.png 360 109 14-Aug-2023 http://mcrj.edwiserinternational.com/admin/uploads/j81OkD.pdf Sanjiv-Chamraj-and-Sharan-Srinivasan {http://www.edwiserinternational.com/contact-us.php} Pharmaceutical Science,Medical Science,Clinical Science {right), hemidystonia and dystonic tremors. Patient has family history (elder sister) of parkinsonism diagnosed with PD at the age of 38 years, and the condition slowly deteriorated and died. Patient was subjected to MRI investigations of brain two years before on clinical condition of right upper limb involuntary movement since from past one year. MRI findings revealed few small non-specific foci of T2 hyperintensity seen scattered in the bilateral frontal white matter (R>L) incidental findings of doubtful significance. Patient was referred for whole exome sequencing. The exome data analysis identified a homozygous autosomal recessive variant of PINK1 gene with variant nomenclature c.823_825delATC; p.Ile275del (Chr1:20644531 ACAT>A) could be associated with EOPD with characterized rare clinical phenotypic manifestations in the form of hemidystonia.]]>} 15-Nov-2023 http://mcrj.edwiserinternational.com/admin/uploads/Xd1H2N.pdf Obeid-A-Abboud-W-Sayida-S {http://www.edwiserinternational.com/contact-us.php} Pharmaceutical Science,Medical Science,Clinical Science {}