{
  "abstract": "Limb‐girdle muscular dystrophy type D4 is caused by a single pathogenic variant of the CAPN3 gene coding for calpain‐3 and is clinically milder than the more common recessive form, type R1. It is likely underdiagnosed, and expanding the phenotype–genotype relationship is needed to establish a clinical guideline for this disorder.",
  "abstract_shown": true,
  "affiliations": [
    "Copenhagen Neuromuscular Center Copenhagen University Hospital Rigshospitalet, University of Copenhagen Copenhagen Denmark",
    "Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet, University of Copenhagen Copenhagen Denmark"
  ],
  "article_type": "case study",
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
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        0
      ],
      "name": "Thomas Krag",
      "orcid": "0000-0001-9330-668X"
    },
    {
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        1
      ],
      "name": "Morten Dunø",
      "orcid": "0000-0002-8436-7744"
    },
    {
      "affs": [
        0
      ],
      "name": "Nanna Witting",
      "orcid": "0000-0002-0664-0709"
    },
    {
      "affs": [
        0
      ],
      "name": "John Vissing",
      "orcid": "0000-0001-6144-8544"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/d602nq08h4gsy.bib",
  "cited_by": 0,
  "doi": "10.1002/ccr3.73848",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13728457/?tool=EBI",
  "id": "d602nq08h4gsy",
  "issns": [
    "2050-0904"
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  "landing_url": "https://europepmc.org/article/PMC/PMC13728457",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Series"
    ],
    [
      "openalex",
      "1312|Muscle Physiology and Disorders"
    ]
  ],
  "openalex": "W7225163773",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13728457/pdf/?tool=EBI",
  "pmcid": "PMC13728457",
  "pmid": "42979128",
  "published": "2026-11-01",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/d602nq08h4gsy.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:46Z",
      "native_id": "PMC:PMC13728457",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13728457"
    },
    {
      "first_seen": "2026-11-07T12:21:26Z",
      "native_id": "PMC13728457",
      "source": "pmc",
      "url": "https://doi.org/10.1002/ccr3.73848"
    }
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  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Muscle Physiology and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies",
  "title_text": "Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:26Z",
  "url": "https://research.draconitic.com/paper/d602nq08h4gsy",
  "venue": "Clinical case reports",
  "versions": []
}