A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review
Conclusion We report a novel homozygous mutation in FUCA1 as the cause of severe neurological phenotype including generalized dystonia. Early recognition of fucosidosis may be important for consideration of promising treatment options, such as bone marrow transplantation. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text
Source: Neuropediatrics - Category: Neurology Authors: Wali, Gautam Wali, G. M. Sue, Carolyn M. Kumar, Kishore R. Tags: Short Communication Source Type: research
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