A case report of an Egyptian family with a rare condition of choreoacanthocytosis and amyotrophy
Objective: This reports an Egyptian family with two members with the rare condition of choreoacanthocytosis and amyotrophy. Background: choreoacanthocytosis is an autosomal recessive disorder caused…A Mcleod syndrome family and novel XK gene mutation in China mainland
Objective: To explore the clinical and genetic features of Mcleod syndrome caused by XK gene mutation. Background: A clincal case we observed in 2017. Methods:…Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.