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Related Experiment Video

Updated: Jun 10, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Metabolic myopathies.

Salvatore DiMauro¹, Caterina Garone, Ali Naini

¹Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, Room 4-424B, 630 West 168th Street, New York, NY 10032, USA. sd12@columbia.edu

Current Rheumatology Reports

|August 3, 2010

Summary

This summary is machine-generated.

Recent metabolic disorder research highlights glycogen synthesis defects, lipid storage myopathies due to lipase gene mutations, and mitochondrial myopathies, including treatable coenzyme Q(10) deficiencies.

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

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Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

Area of Science:

Biochemistry
Genetics
Neurology

Background:

Metabolic disorders impact glycogen, fatty acid, and mitochondrial pathways.
Recent research focuses on novel genetic defects and clinical presentations.

Purpose of the Study:

To review recent advancements in understanding glycogenoses, lipid metabolism disorders, and mitochondrial myopathies.
To highlight key genetic mutations and therapeutic insights.

Main Methods:

Literature review of recent developments in metabolic disorder research.
Analysis of genetic mutations and their phenotypic consequences.

Main Results:

Identified defects in glycogen synthesis (aglycogenosis) and polyglucosan storage disorders.
Linked mutations in triglyceride lipase genes to lipid storage myopathies (e.g., Chanarin-Dorfman syndrome).
Emphasized the role of homoplasmic mitochondrial DNA mutations and coenzyme Q(10) deficiencies in mitochondrial myopathies.

Conclusions:

Significant progress in understanding glycogen, fatty acid, and mitochondrial disorders.
Identification of new genetic causes and potential therapeutic targets, particularly for coenzyme Q(10) deficiencies.