POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome
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چکیده
منابع مشابه
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome
BACKGROUND POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. CASE PRESENTATION We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and r...
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A 48-year-old man was admitted for workup of stroke-like symptoms and generalised tonic-clonic seizures. History and examination revealed that the patient had background diagnoses of type 2 diabetes mellitus, epilepsy and had suffered a temporal lobe infarct 3 years ago. The unusual presentation and physical findings, along with subsequent MRI findings led to a diagnosis of mitochondrial myopat...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2013
ISSN: 1471-2377
DOI: 10.1186/1471-2377-13-8