PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).

Abstract A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.
PMID
Related Publications

An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA.

MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes.

Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report.

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).

Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).

Authors

Mayor MeshTerms
Keywords
Journal Title bmj case reports
Publication Year Start




PMID- 28242802
OWN - NLM
STAT- In-Process
DA  - 20170228
LR  - 20170228
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 2017
DP  - 2017 Feb 27
TI  - Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and
      stroke-like episodes (MELAS).
LID - bcr2016218133 [pii]
LID - 10.1136/bcr-2016-218133 [doi]
AB  - A 26-year-old man presented to the emergency department with new-onset
      generalised tonic-clonic seizures. His clinical picture suggested either
      autoimmune or infectious encephalitis while his brain imaging raised the
      possibility of a stroke. A detailed developmental and childhood medical history
      added suspicion of a mitochondrial defect to the differential. After several
      molecular genetic analyses, an uncommon mitochondrial mutation was confirmed,
      unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis
      and stroke-like episodes (MELAS) syndrome.
CI  - 2017 BMJ Publishing Group Ltd.
FAU - David, Jasna
AU  - David J
AD  - Department of Neurology, Sligo University Hospital, Sligo, Ireland.
FAU - Okiro, Julie Omolola
AU  - Okiro JO
AD  - Department of Medicine, Sligo University Hospital, Sligo, Ireland.
FAU - Murphy, Kevin
AU  - Murphy K
AD  - Department of Neurology, Sligo University Hospital, Sligo, Ireland.
FAU - Elamin, Marwa
AU  - Elamin M
AD  - Department of Neurology, Sligo University Hospital, Sligo, Ireland.
LA  - eng
PT  - Journal Article
DEP - 20170227
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
EDAT- 2017/03/01 06:00
MHDA- 2017/03/01 06:00
CRDT- 2017/03/01 06:00
AID - bcr-2016-218133 [pii]
AID - 10.1136/bcr-2016-218133 [doi]
PST - epublish
SO  - BMJ Case Rep. 2017 Feb 27;2017. pii: bcr2016218133. doi: 10.1136/bcr-2016-218133.

<?xml version="1.0" encoding="UTF-8"?>
<b:Sources SelectedStyle="" xmlns:b="http://schemas.openxmlformats.org/officeDocument/2006/bibliography"  xmlns="http://schemas.openxmlformats.org/officeDocument/2006/bibliography" >
</b:Sources>