Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene-Reference-Cited by-同舟云学术

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene

Published:2024-07-02 Issue:4 Volume:11 Page:871-875
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Bisciglia Michela¹^ORCID,Kadhim Hazim²,Lecomte Sophie²,Vandernoot Isabelle³,Desmyter Laurence³,Remiche Gauthier¹

Affiliation:

1. Centre de Référence Neuromusculaire, Service de Neurologie, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium

2. Neuropathology Unit and Reference Center for Neuromuscular Pathology, Department of Pathology, CHU Brugmann, Université Libre de Bruxelles (ULB), Brussels, Belgium

3. Department of Genetics, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium

Abstract

Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates. Exome sequencing revealed a heterozygous p.R528H (c.1583G>A) mutation in the CACNA1S gene. CACNA1S-related HypoPP evolving to persistent myopathy in late adulthood is a well-known clinical condition. However, isolated progressive myopathy (without PP) was only exceptionally reported and never with an early onset. Reporting a case of early onset CACNA1S-related myopathy in a patient with no HypoPP we intend to alert clinicians to consider it in the differential diagnosis of younger adult-onset myopathies especially when featuring vacuolar changes.

Publisher

IOS Press

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