Article: Case report: Dihydropyridine receptor (
2024 Volume 15, Page(s) 1359479
Abstract: Introduction: CACNA1S: Clinical description: Both sisters had neonatal onset hypotonia, muscle weakness, and delayed walking. Episodic weakness started in infancy and continued thereafter, provoked mostly by cold exposure. Muscle imaging revealed fat ...
Abstract | Introduction: CACNA1S Clinical description: Both sisters had neonatal onset hypotonia, muscle weakness, and delayed walking. Episodic weakness started in infancy and continued thereafter, provoked mostly by cold exposure. Muscle imaging revealed fat replacement of gluteus maximus muscles. Next generation sequencing found the missense p.Cys944Tyr variant and the novel splicing variant c.3526-2A>G in Conclusion: This novel phenotype supports the notion that there are age related differences in the clinical expression of |
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Language | English |
Publishing date | 2024-02-15 |
Publishing country | Switzerland |
Document type | Case Reports |
ZDB-ID | 2564214-5 |
ISSN | 1664-2295 |
ISSN | 1664-2295 |
DOI | 10.3389/fneur.2024.1359479 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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