Establishment of normal myofiber size distribution in children and young adults

Michael W Lawlor; Marta Margeta; Karra A Jones; Benedikt Schoser; Jennifer A Cotter; Veena Rajaram; Steven A Moore; Mariah J Prom; Margaret Beatka; Emily Ott; Rebecca A Slick; Michael P Collins; Ann Esselman; Nazima Shahnoor; Susan Danielson; Hui Meng; Fatbardha Varfaj; Suyash Prasad; Salvador Rico; Jun Lee; Suresh N Kumar; Heather Gordish Dressman

doi:10.1093/jnen/nlaf123

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Establishment of normal myofiber size distribution in children and young adults

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Establishment of normal myofiber size distribution in children and young adults

Michael W Lawlor, Marta Margeta, Karra A Jones, Benedikt Schoser, Jennifer A Cotter, Veena Rajaram, Steven A Moore, Mariah J Prom, Margaret Beatka, Emily Ott, …

Journal of neuropathology and experimental neurology, Vol.84(12), pp.1159-1173

12/01/2025

DOI: 10.1093/jnen/nlaf123

PMCID: PMC12713552

PMID: 41206585

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Abstract

Abnormalities of myofiber size are often of diagnostic significance on skeletal muscle biopsies, mainly when myofibers are excessively small. The establishment of standards for myofiber size in children has been hampered until recently by the lack of tools to assess large numbers of fibers across a sizeable number of samples. This study describes the assessment of myofiber size in 349 histologically normal patient biopsy specimens obtained between 4 weeks and 25 years of life and corresponding primarily to locations in the thigh/quadriceps/vastus lateralis region. Biopsy specimens were selected for inclusion based on histologically normal light microscopic findings and minimal technical artifacts. H&E-stained slides were scanned and evaluated for minFeret diameter using a Visiopharm software app (APP #10164). MinFeret diameter fiber size data were then grouped into 18 age cohorts to establish normal ranges for males and females within each age cohort. A pilot study to compare known abnormal cases to these normal ranges was then performed to demonstrate how cases with abnormal fiber size might compare to these standards. This dataset provides a user-friendly and applicable set of standard fiber size ranges to assist in diagnostic and scientific work in children and young adults.

growth curve

fiber size

muscle biopsy

muscle pathology

muscle growth

minFeret diameter

Details

Title: Subtitle: Establishment of normal myofiber size distribution in children and young adults
Creators: Michael W Lawlor - Medical College of Wisconsin
Marta Margeta - University of California, San Francisco
Karra A Jones - Duke University
Benedikt Schoser - Ludwig-Maximilians-Universität München
Jennifer A Cotter - Children's Hospital of Los Angeles
Veena Rajaram - The University of Texas Southwestern Medical Center
Steven A Moore - University of Iowa
Mariah J Prom - Diverge Translational Science Laboratory, Milwaukee, WI, United States
Margaret Beatka - Diverge Translational Science Laboratory, Milwaukee, WI, United States
Emily Ott - Diverge Translational Science Laboratory, Milwaukee, WI, United States
Rebecca A Slick - Medical College of Wisconsin
Michael P Collins - Medical College of Wisconsin
Ann Esselman - Medical College of Wisconsin
Nazima Shahnoor - Medical College of Wisconsin
Susan Danielson - Medical College of Wisconsin
Hui Meng - Diverge Translational Science Laboratory, Milwaukee, WI, United States
Fatbardha Varfaj - Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics), San Francisco, CA, United States
Suyash Prasad - Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics), San Francisco, CA, United States
Salvador Rico - Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics), San Francisco, CA, United States
Jun Lee - Formerly of Astellas Gene Therapies (formerly Audentes Therapeutics), San Francisco, CA, United States
Suresh N Kumar - Medical College of Wisconsin
Heather Gordish Dressman - George Washington University
Resource Type: Journal article
Publication Details: Journal of neuropathology and experimental neurology, Vol.84(12), pp.1159-1173
DOI: 10.1093/jnen/nlaf123
PMID: 41206585
PMCID: PMC12713552
NLM abbreviation: J Neuropathol Exp Neurol
ISSN: 0022-3069
eISSN: 1554-6578
Publisher: Oxford University Press
Grant note: Astellas Gene Therapies
Language: English
Electronic publication date: 11/04/2025
Date published: 12/01/2025
Academic Unit: Pathology
Record Identifier: 9985027354602771

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