Browsing by Subject "tendon reflex"
Now showing items 1-3 of 3
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A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
(2020)ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ... -
A probable role of copper in the comorbidity in Wilson's and Creutzfeldt-Jakob's Diseases: A case report
(2020)Background: To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson's and Creutzfeldt-Jakob disease (CJD), linked through copper. Case presentation: A 44-year-old ... -
Unnecessary diagnostic investigations in benign acute childhood myositis: A case series report
(2012)Benign acute childhood myositis (BACM) is a rare, acute, self-limiting muscle disorder, mainly affecting school-aged boys, with an excellent prognosis, requiring no therapeutic intervention. We report a series of seven ...