{
  "abstract": "Rationale\n\nNemaline myopathy (NM) is a rare hereditary myopathy, most commonly caused by mutations in the NEB gene. This case highlights the diagnostic challenges and expands the mutational spectrum of the disease.Patient concerns\n\nA 21-year-old male presented with a history of progressive muscle weakness. The symptoms began in the distal lower limbs at age 3 and later involved proximal and masticatory muscles.Diagnoses\n\nThe patient was diagnosed with nemaline myopathy type 2. Diagnosis was based on electromyography suggesting myogenic damage, muscle magnetic resonance imaging (MRI) showing extensive atrophy and fatty infiltration, muscle biopsy revealing nemaline rods, and genetic testing confirming compound heterozygous NEB mutations (paternal c.21417 + 3A > G and de novo c.7272G > A).Interventions\n\nThe patient received symptomatic treatment.Outcomes\n\nSymptomatic treatment provided limited clinical improvement. This is the first report confirming the pathogenicity of the NEB c.7272G > A mutation.Lessons\n\nGenetic testing is essential for diagnosing NM. Clinicians should be aware of NM subtypes that initially present with masticatory muscle weakness. This case provides new evidence for genotype-phenotype correlation and is valuable for genetic counseling.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Neurology, The Second Hospital of Lanzhou University, Lanzhou, China.",
    "The Second Clinical Medical College, Lanzhou University, Lanzhou, China.",
    "Department of Cardiology, The Second Hospital of Lanzhou University, Lanzhou, China."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Yan-Fang Zhang"
    },
    {
      "affs": [
        0
      ],
      "name": "Guo-De Wu"
    },
    {
      "affs": [
        1
      ],
      "name": "Ya-Zhen Hao"
    },
    {
      "affs": [
        0
      ],
      "name": "Wen-Juan Li"
    },
    {
      "affs": [
        0
      ],
      "name": "Xiao-Ling Qian"
    },
    {
      "affs": [
        2
      ],
      "name": "Jian-Fei Wang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ffgkawsqafjw4.bib",
  "cited_by": 0,
  "doi": "10.1097/md.0000000000051064",
  "fulltext_url": "https://europepmc.org/articles/PMC13681148",
  "id": "ffgkawsqafjw4",
  "issns": [
    "0304-5412",
    "1536-5964"
  ],
  "landing_url": "https://europepmc.org/article/MED/42888553",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1312|Muscle Physiology and Disorders"
    ]
  ],
  "openalex": "W7222744002",
  "pdf_url": "https://europepmc.org/articles/PMC13681148?pdf=render",
  "pmcid": "PMC13681148",
  "pmid": "42888553",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/ffgkawsqafjw4.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:00Z",
      "native_id": "MED:42888553",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42888553"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Muscle Physiology and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.",
  "title_text": "Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:00Z",
  "url": "https://research.draconitic.com/paper/ffgkawsqafjw4",
  "venue": "Medicine",
  "versions": []
}