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Updated: Jul 8, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease
Timothy Harrower1, Joanna D Stewart, Gavin Hudson
1Department of Neurology, Essex Center for Neurological Sciences, Queen's Hospital, Romford, England.
Background:
Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge.
Objective:
To determine the cause of axonal CMT type 2 in 3 siblings.
Design:
Case report.
Setting:
Academic research.
Participants:
Three siblings who subsequently developed profound cerebellar ataxia.
Main Outcome Measures:
Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase gamma-1) gene, as well as screening of control subjects for POLG1 sequence variants.
Results:
Cytochrome c oxidase deficient fibers and multiple deletions of mitochondrial DNA were detected in skeletal muscle. Three compound heterozygous substitutions were detected in POLG1.
Conclusion:
Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.
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