Article

Novel IBA57 Mutations in Two Chinese Patients and Literature Review of Multiple Mitochondrial Dysfunction Syndrome

2021-08-09

Abstract excerpt

Multiple mitochondrial dysfunction syndrome (MMDS) refers to a class of mitochondrial diseases caused by nuclear gene mutations, which usually begins in early infancy and is classically characterized by markedly impaired neurological development, generalized muscle weakness, lactic acidosis, and hyperglycinemia, cavitating leukoencephalopathy, respiratory failure, as well as early fatality resulted from dysfunctio...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c1a9d50b-4ec4-51d8-ad46-15c59874f1e2
DOI: 10.21203/rs.3.rs-770528/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel IBA57 Mutations in Two Chinese Patients and Literature Review of Multiple Mitochondrial Dysfunction SyndromeDOI 10.21203/rs.3.rs-770528/v1Read

Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.Semantic proximity Read

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.Semantic proximity Read

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural historySemantic proximity Read

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.Semantic proximity Read

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.Semantic proximity Read

Homozygous c.259G>A variant in <i>ISCA1</i> is associated with a new multiple mitochondrial dysfunctions syndromeSemantic proximity Read

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.Semantic proximity Read

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.Semantic proximity Read

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Semantic proximity Read

Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.Semantic proximity Read

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.Semantic proximity Read

Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.Semantic proximity Read