Evidence map›Paper›PMID 38788083›Full record

ArticleJournal of neuromuscular diseases2024

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.

Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Permanent weakness and myopathy in hypokalemic periodic paralysis.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2026
    Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Michela BiscigliaCentre de Référence Neuromusculaire, Service de Neurologie, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Hazim KadhimNeuropathology Unit and Reference Center for Neuromuscular Pathology, Department of Pathology, CHU Brugmann, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Sophie LecomteNeuropathology Unit and Reference Center for Neuromuscular Pathology, Department of Pathology, CHU Brugmann, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Isabelle VandernootDepartment of Genetics, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Laurence DesmyterDepartment of Genetics, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Gauthier RemicheCentre de Référence Neuromusculaire, Service de Neurologie, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Calcium Channels, L-TypeMutationAgedAge of OnsetHumansHypokalemic Periodic ParalysisMaleMuscle, SkeletalMuscular DiseasesVacuolesCACNA1S protein, humanCalcium Channels, L-TypeCACNA1Searly onset myopathyHypokalemic periodic palsyvacuolar myopathy

Identifiers

PMID38788083
PMCPMC11307083

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.