Skip to content
DraconiticResearch
Search Sources API
190,839 studies31 sourcesUpdated 22 min ago
Peer-reviewedCC BYMedicine

Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.

  • Yan-Fang Zhang1
  • Guo-De Wu1
  • Ya-Zhen Hao2
  • Wen-Juan Li1
  • Xiao-Ling Qian1
  • Jian-Fei Wang3
  1. 1Department of Neurology, The Second Hospital of Lanzhou University, Lanzhou, China.
  2. 2The Second Clinical Medical College, Lanzhou University, Lanzhou, China.
  3. 3Department of Cardiology, The Second Hospital of Lanzhou University, Lanzhou, China.
Read full textPDFDOICite

Abstract

Rationale

Nemaline 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

A 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

The 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

The patient received symptomatic treatment.Outcomes

Symptomatic treatment provided limited clinical improvement. This is the first report confirming the pathogenicity of the NEB c.7272G > A mutation.Lessons

Genetic 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.

Related

  1. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
    Andreea Seferian, Edoardo Malfatti, Caroline Bosson +10
    Neuromuscular DisordersPeer-reviewedLicence not statedFull text19 citedMolecular biology & gene regulationHAL
  2. Paternal diet shapes paternal and maternal transcriptomes in the early embryo through parallel sperm-associated mechanisms
    L. C. Steg, I. Blanc Giro, K. Uzel +2
    bioRxivPreprintCC BYFull textMolecular biology & gene regulationbioRxiv
  3. Cross-generational characterization of paternal Low Protein Diet effects in mice
    F. Santilli, M. Riposati, L. Castaldi +2
    bioRxivPreprintCC BY-NCFull textMolecular biology & gene regulationbioRxiv
  4. Comparative profiling of sperm small RNAs in cnidarians highlights potential for paternal inheritance
    J. Ashey, B. H. Glass, N. S. Galambos +2
    bioRxivPreprintCC BY-NDFull textMolecular biology & gene regulationbioRxiv
  5. Paternal early-life stress and diet influence sperm DNA methylation, female offspring behavior and amygdala transcription
    Tam Yadid, Tatiana Kisliouk, Maayan Ramaty +2
    Scientific ReportsPeer-reviewedCC BY 4.0Full textMolecular biology & gene regulationCrossref

Cite

BibTeXRIS
BibTeX
@article{zhang2026spontaneous,
  title = {{Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.}},
  author = {Yan-Fang Zhang and Guo-De Wu and Ya-Zhen Hao and Wen-Juan Li and Xiao-Ling Qian and Jian-Fei Wang},
  journal = {Medicine},
  year = {2026},
  month = oct,
  doi = {10.1097/md.0000000000051064},
  url = {https://europepmc.org/article/MED/42888553},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.
AU  - Yan-Fang Zhang
AU  - Guo-De Wu
AU  - Ya-Zhen Hao
AU  - Wen-Juan Li
AU  - Xiao-Ling Qian
AU  - Jian-Fei Wang
PY  - 2026
DA  - 2026/10/01
JO  - Medicine
DO  - 10.1097/md.0000000000051064
UR  - https://europepmc.org/article/MED/42888553
AB  - Rationale  Nemaline 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  A 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  The 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  The patient received symptomatic treatment.Outcomes  Symptomatic treatment provided limited clinical improvement. This is the first report confirming the pathogenicity of the NEB c.7272G > A mutation.Lessons  Genetic 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.
SN  - 0304-5412
SN  - 1536-5964
ER  -