Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

Abstract Background Biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics, depending on the localization and the feature of t...

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Bibliographic Details
Main Authors: Burcu Atasu, Ayse Nur Ozdag Acarlı, Basar Bilgic, Betül Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann
Format: Article
Language:English
Published: BMC 2022-03-01
Series:BMC Neurology
Subjects:
SCARB2
Action Myoclonus-Renal Failure Syndrome
Progressive Myoclonic Epilepsy
Gaucher disease
Parkinson’s disease
Ataxia
Online Access:https://doi.org/10.1186/s12883-022-02628-y

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https://doi.org/10.1186/s12883-022-02628-y

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