Evidence map›Paper›PMID 41213961›Full record

ArticleNPJ genomic medicine2025

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.

Rebecca L Koch, Angie H Fares, Benjamin T Cocanougher, Jamie Lim, Andrea B Haijer-Schreuder, Terry G J Derks, Sarah C Grünert, Reena Sharma, Karra A Jones, Priya S Kishnani

Erratum issued Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT04454216 (GSD VI and GSD IX Natural History), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

NCT04454216 recruitingnot on this map

GSD VI and GSD IX Natural History

Typeobservational_patient_registrySponsorDuke UniversityRan2020 to 2030Enrolled400ConditionsGlycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXBArmsNo intervention
3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Rebecca L Koch *Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Angie H Fares *Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Benjamin T CocanougherDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Jamie LimDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Andrea B Haijer-SchreuderDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.
Terry G J DerksDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.
Sarah C GrünertDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Reena SharmaThe Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK.
Karra A JonesDepartment of Pathology, Division of Neuropathology, Duke University, Durham, NC, USA.
Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. priya.kishnani@duke.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Muscle phosphorylase kinase deficiency results from X-linked pathogenic variants in PHKA1, leading to glycogen storage disease (GSD) type IXα1 (also known as GSD IXd). As part of an international collaboration, we describe 14 previously unreported cases (12 males, 2 females; ClinicalTrials.gov NCT04454216, registered 2020-07-01). We compared our cohort to 18 cases previously reported and to an additional 16 cases identified through the National Institutes of Health All of Us Research Program. The clinical presentations highlight the predominance of myopathic symptoms on exertion and emphasize the variability in age of onset. Examination of muscle biopsies revealed glycogen accumulation and an increase in lipid droplets indicative of mitochondrial dysfunction and mitophagy. We encourage clinicians to maintain a high level of suspicion even in the setting of normal blood creatine kinase levels. Comprehensive longitudinal natural history studies remain necessary to improve disease detection, inform management guidelines, and provide a foundation for therapeutic development.

Identifiers

PMID41213961
PMCPMC12603314

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Registered trials

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.