Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis

Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis

IntroductionCACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic weakness.Clinical descriptionBoth sisters had neonatal onset h...

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Bibliographic Details
Main Authors: Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Neurology
Subjects:
congenital myopathy
episodic weakness
CACNA1S
Cav1.1
DHPR
splice minigene assay
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1359479/full

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https://www.frontiersin.org/articles/10.3389/fneur.2024.1359479/full

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