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Updated: Jun 21, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

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Published on: July 15, 2014

[Metabolic myopathies - an overview].

M Lammens¹, B Schoser

¹Departments of Pathology and Neurology, Radboud University Nijmegen Medical Center, The Netherlands.

|July 28, 2009

Summary

Metabolic myopathies are rare genetic disorders affecting energy production, often with multi-systemic symptoms. Early diagnosis is crucial for targeted therapies like enzyme replacement, improving patient outcomes.

Area of Science:

Biochemistry
Genetics
Neurology

Context:

Metabolic myopathies represent a group of rare, inherited disorders impacting cellular energy production.
These conditions frequently present with multi-systemic manifestations, complicating diagnosis.

Purpose:

To provide an updated overview of metabolic myopathies, covering clinical features, pathophysiology, and current therapeutic strategies.
To highlight the importance of recognizing oligosymptomatic presentations and the diagnostic challenges they pose.

Summary:

This review details the clinics, pathophysiology, pathomorphology, and treatment of metabolic myopathies.
Knowledge of gene mutations and their resulting pathophysiology/pathomorphology is advancing rapidly.
Accurate diagnosis is increasingly vital due to the availability of specific treatments, such as enzyme replacement therapy for Pompe disease.

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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Impact:

Advances in understanding gene mutations and pathophysiology enable more precise diagnoses.
Emerging targeted therapies, including enzyme replacement, offer new hope for patients with specific metabolic myopathies.
Increased awareness of diverse clinical presentations, including subtle forms, can lead to earlier intervention and better management.