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Related Experiment Video

Updated: May 8, 2026

Human Vastus Lateralis Skeletal Muscle Biopsy Using the Weil-Blakesley Conchotome
07:16

Human Vastus Lateralis Skeletal Muscle Biopsy Using the Weil-Blakesley Conchotome

Published on: March 4, 2016

[Muscle biopsy in children: Usefulness in 2012].

J-M Cuisset1, C-A Maurage, A Carpentier

  • 1Service de neuropédiatrie, hôpital Roger-Salengro, CHRU, rue du Professeur-Émile-Laine, 59037 Lille cedex, France; Centre de référence des maladies neuromusculaires, CHRU, 2, rue André-Verhaeghe, 59037 Lille cedex, France.

Revue Neurologique
|September 3, 2013
PubMed
Summary

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Pediatric muscle biopsy is crucial for diagnosing childhood neuromuscular disorders. This study found that muscle biopsies provide specific histopathological anomalies in 44% of cases, aiding etiological and genetic diagnoses.

Area of Science:

  • Pediatric Neurology
  • Neuropathology
  • Clinical Genetics

Background:

  • Muscle biopsy is a primary diagnostic method for pediatric neuromuscular disorders.
  • Investigating neuromuscular disorders in children requires accurate etiological diagnosis.

Purpose of the Study:

  • To evaluate the diagnostic yield of pediatric muscle biopsies.
  • To determine the contribution of muscle biopsy to etiological and genetic diagnoses in children.

Main Methods:

  • Retrospective analysis of 419 pediatric muscle biopsies performed between 2000 and 2009.
  • Inclusion of mitochondrial respiratory chain analysis for a subset of patients.
  • Histopathological and genetic correlation for diagnosis.

Main Results:

Keywords:
Biopsie musculaireChildrenEnfantMuscle biopsyMyopathieMyopathy

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Immunolabelling Myofiber Degeneration in Muscle Biopsies
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Last Updated: May 8, 2026

Human Vastus Lateralis Skeletal Muscle Biopsy Using the Weil-Blakesley Conchotome
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Human Vastus Lateralis Skeletal Muscle Biopsy Using the Weil-Blakesley Conchotome

Published on: March 4, 2016

Collection of Skeletal Muscle Biopsies from the Superior Compartment of Human Musculus Tibialis Anterior for Mechanical Evaluation
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Collection of Skeletal Muscle Biopsies from the Superior Compartment of Human Musculus Tibialis Anterior for Mechanical Evaluation

Published on: September 27, 2020

Immunolabelling Myofiber Degeneration in Muscle Biopsies
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Immunolabelling Myofiber Degeneration in Muscle Biopsies

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  • Muscle biopsy provided specific histopathological anomalies in 184 patients (44%), enabling etiological diagnosis.
  • Biopsies led to genetic diagnoses in 85% of progressive muscular dystrophies and focused gene identification in congenital myopathies.
  • Specific anomalies included dystrophic, neurogenic, metabolic, and ultrastructural findings, aiding in phenotypes like Duchenne or Becker muscular dystrophy.

Conclusions:

  • Pediatric muscle biopsy is indispensable for establishing the etiological diagnosis in children with myopathies.
  • Muscle biopsy offers precise diagnostic orientation in approximately 45% of pediatric cases, guiding genetic investigations.
  • The study highlights the significant role of muscle biopsy in diagnosing a wide spectrum of neuromuscular disorders in children.