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Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like...

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0ecab714f84d499fa5d3e0eca9e66034

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

About this item

Full title

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

Publisher

London: BioMed Central Ltd

Journal title

Journal of medical case reports, 2022-10, Vol.16 (1), p.1-361, Article 361

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome is a rare mitochondrial genetic disorder that can present with a variety of clinical manifestations, including stroke, hearing loss, seizures, and lactic acidosis. The most common genetic mutation associated with this syndrome is M.3243A>G. The main underl...

Alternative Titles

Full title

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_0ecab714f84d499fa5d3e0eca9e66034

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0ecab714f84d499fa5d3e0eca9e66034

Other Identifiers

ISSN

1752-1947

E-ISSN

1752-1947

DOI

10.1186/s13256-022-03613-2

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