Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

Introduction: Pathogenic variants in the XK gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally adm...

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Hlavní autoři: Christine Anna Dambietz, Andrea Doescher, Michael Heming, Anja Schirmacher, Bernhard Schlüter, Andrea Schulte-Mecklenbeck, Christian Thomas, Heinz Wiendl, Gerd Meyer zu Hörste, Sarah Wiethoff
Médium: Článek
Jazyk:English
Vydáno: Frontiers Media S.A. 2024-08-01
Edice:Frontiers in Genetics
Témata:
XK gene
McLeod syndrome
neuropathy
myopathy
Kell system
neurogenetic disease
On-line přístup:https://www.frontiersin.org/articles/10.3389/fgene.2024.1421952/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1421952/full

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