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Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001/archneurol.2008.526.

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Author information

1
Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA. pk88@columbia.edu

Abstract

OBJECTIVE:

To describe the spectrum of clinical symptoms, signs, and laboratory features associated with A3243G, a mitochondrial DNA point mutation that affects multiple organs with varying severity, making the diagnosis and treatment of these patients complex.

DESIGN:

Cohort study.

SETTING:

Columbia University Medical Center.

PARTICIPANTS:

A cohort of 123 matrilineal relatives from 45 families, including 45 fully symptomatic patients with mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (syndrome), 78 carrier relatives, and 30 controls.

MAIN OUTCOME MEASURES:

Data gathered from standardized medical history questionnaires, neurological and ophthalmological examination forms, and laboratory tests. We compared data between 3 groups.

RESULTS:

Mutation carriers' clinical and laboratory results frequently had many abnormalities. In addition to neurological symptoms, they often had cardiac, endocrine, gastrointestinal, and psychiatric symptoms.

CONCLUSIONS:

The A3243G mutation carriers have multiple medical problems, suggesting that the A3243G mutation should be considered as an etiological factor in patients with multisystem clinical presentations or a family history compatible with matrilineal inheritance. Because some medical problems affecting A3243G mutation carriers are treatable, early detection and proactive management may mitigate the burden of morbidity.

PMID:
19139304
DOI:
10.1001/archneurol.2008.526
[Indexed for MEDLINE]

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