期刊
ARCHIVES OF NEUROLOGY
卷 65, 期 1, 页码 133-136出版社
AMER MEDICAL ASSOC
DOI: 10.1001/archneurol.2007.4
关键词
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资金
- Medical Research Council [G0601943B] Funding Source: researchfish
- Medical Research Council [G108/638] Funding Source: Medline
- MRC [G108/638] Funding Source: UKRI
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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