A case of mitochondrial DNA A3243G mutation presenting with renal complications and hearing impairment as the main clinical manifestations.
نویسندگان
چکیده
منابع مشابه
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.
OBJECTIVE To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation. DESIGN A series of 52 adults with mitochondrial encephalomyopathies and their symptomatic relatives were screened for the A3243G mutation using restriction enzyme analysis. In addition to clinical examination, patients with the mutation underwent audiometry. RESULTS...
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ژورنال
عنوان ژورنال: AUDIOLOGY JAPAN
سال: 2013
ISSN: 0303-8106,1883-7301
DOI: 10.4295/audiology.56.769