Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance

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

Open source

DOI: 10.3389/fped.2026.1875252
Published: 2026-09-03
Container: Frontiers in Pediatrics
Publisher: Frontiers Media SA
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.3389/fped.2026.1875252,
  title = {Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance},
  author = {Saptadweepa Sanghamitra and Rupashree Mandala and Hetal Budh and Yashita Arora and Pedro Rivera-Hernandez and N Ja Hpa and Valerie Elberson and Munmun Rawat and Srinivasan Mani},
  year = {2026},
  journal = {Frontiers in Pediatrics},
  doi = {10.3389/fped.2026.1875252},
  url = {https://doi.org/10.3389/fped.2026.1875252}
}

RIS

TY  - JOUR
TI  - Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance
AU  - Saptadweepa Sanghamitra
AU  - Rupashree Mandala
AU  - Hetal Budh
AU  - Yashita Arora
AU  - Pedro Rivera-Hernandez
AU  - N Ja Hpa
AU  - Valerie Elberson
AU  - Munmun Rawat
AU  - Srinivasan Mani
PY  - 2026
JO  - Frontiers in Pediatrics
DO  - 10.3389/fped.2026.1875252
UR  - https://doi.org/10.3389/fped.2026.1875252
ER  -

APA

Sanghamitra, S., Mandala, R., Budh, H., Arora, Y., Rivera-Hernandez, P., Hpa, N. J., Elberson, V., Rawat, M., & Mani, S. (2026). Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance. Frontiers in Pediatrics. https://doi.org/10.3389/fped.2026.1875252

Source records

crossref · retrieved 2026-09-25T12:17:32.921Z