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Related Experiment Video

Updated: May 27, 2026

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

[Myofibrillar myopathy].

Yukiko K Hayashi¹

¹Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira-shi, Tokyo, Japan.

Brain and Nerve = Shinkei Kenkyu No Shinpo

|November 10, 2011

Summary

Myofibrillar myopathy (MFM) is a muscle disorder with disorganized myofibrils. Many patients lack mutations in known genes, highlighting the need for new discoveries.

Area of Science:

Neurology
Genetics
Pathology

Context:

Myofibrillar myopathy (MFM) is a group of inherited muscle disorders.
Pathologically, MFM involves disorganized myofibrils and cytoplasmic inclusions.
Seven genes (DES, CRYAB, MYOT, ZASP, FLNC, BAG3, FHL1) linked to Z-line proteins are known.

Purpose:

To review the clinical, pathological, and genetic characteristics of MFM.
To present findings from recent patient studies.
To emphasize the need for novel gene discovery and diagnostic tools.

Summary:

MFM presents with variable clinical symptoms, onset age, and inheritance patterns (autosomal dominant, recessive, X-linked).
Skeletal muscles show cytoplasmic inclusions and protein accumulations (Z-line, membrane, heat shock, ubiquitin).

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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

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Last Updated: May 27, 2026

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Despite extensive screening, ~70% of MFM patients in the series lacked mutations in known genes.

Impact:

Highlights significant gaps in understanding MFM etiology.
Underscores the urgent need for identifying novel disease-related genes.
Calls for developing efficient diagnostic tools and elucidating pathomechanisms for potential treatments.