Evidence map›Paper›PMID 42756029›Full record

ArticleFrontiers in pediatrics2026

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a

Saptadweepa Sanghamitra, Rupashree Mandala, Hetal Budh, Yashita Arora, Pedro Rivera-Hernandez, N Ja Hpa, Valerie Elberson, Munmun Rawat, Srinivasan Mani

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

Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Saptadweepa SanghamitraDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Rupashree MandalaDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Hetal BudhDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Yashita AroraDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Pedro Rivera-HernandezDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
N Ja HpaDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Valerie ElbersonDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Munmun RawatDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.
Srinivasan ManiDivision of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, NY, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the Ryanodine Receptor 1 (RYR1) gene represent the most common cause of congenital myopathy. The severity of RYR1-related myopathy presenting in the neonatal period is quite variable, ranging from a perinatal lethal type to a benign late-onset form with progressive improvement. We report a newborn infant who presented at birth with severe hypoxic ischemic encephalopathy (HIE), underwent therapeutic hypothermia (TH), and was later diagnosed with RYR1-related myopathy. Exome sequencing identified a

Indexed as

hypoxic ischemic encephalopathyinfantnewbornRYR1-related myopathyvariant of uncertain significance

Identifiers

PMID42756029
PMCPMC13582348

What Socratic holds

Textmetadata
Read underepoch 390

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 Socratic graph.