A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25083/fullpdf
Reference5 articles.
1. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder;Badhwar;Brain,2004
2. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am J Hum Genet,2008
3. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome;Balreira;Hum Mol Genet,2008
4. LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness, and peripheral neuropathy in mice;Gamp;Hum Mol Genet,2003
5. Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations;Rubboli;Epilepsia,2011
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1. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions;International Journal of Molecular Sciences;2024-06-16
2. Action Myoclonus-Renal Failure Syndrome: Case Report with Bioinformatic Annotations;Cureus;2023-07-01
3. Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings;Parkinsonism & Related Disorders;2022-06
4. Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review;BMC Neurology;2022-03-28
5. A diagnosis of progressive myoclonic ataxia guided by blood biomarkers;Parkinsonism & Related Disorders;2022-01
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