The clinical heterogeneity of late-onset MELAS
نویسندگان
چکیده
منابع مشابه
The clinical heterogeneity of late-onset MELAS
We read with interest the response by Finsterer and Zarrouk-Mahjoub [1] to our manuscript ‘Case Report: 5 Year Follow-up of Adult Late-Onset Mitochondrial Encephalomyopathy with Lactic Acid and Stroke-Like Episodes (MELAS)’ [2–4]. We have the following responses: Regarding the doses of initial anti-epileptic medication (AEDs), since this was some time ago and at a different institution we do no...
متن کاملA case of late-onset MELAS.
We describe a 60-year-old man with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and discuss the mitochondrial DNA point mutation 3243. A diagnosis of MELAS should be considered in the appropriate clinical setting at any age.
متن کاملPhenotypic heterogeneity of MELAS☆☆☆
With interest we read the article by Dvorakova et al. about 50 Czech patients carrying the m.3243ANG mutation [1]. It raises questions and concerns. Since MELAS is a progressive disease, we should be informed about the long-term follow-up findings in the 50 mutation carriers. How many of the 17 patients without clinical manifestations at inclusion developed MELAS during follow-up? How many of t...
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متن کاملLow blood heteroplasmy-rate may cause late-onset MELAS☆☆☆★
Letter to the Editor The interesting article by Sunde et al. about a 54 yo female with MELAS due to the m.3243ANG mutation with a blood heteroplasmyrate of 31% and manifesting with recurrent stroke-like episodes(SLEs), tonic-clonic seizures, migraine, hypothyroidism, short stature, fatigability, and hearing-loss [1] raises the following comments and concerns. For epilepsy the patient was initia...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2017
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2017.04.003