Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation-Reference-Cited by-同舟云学术

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Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

Published:1996-05 Issue:5 Volume:39 Page:914-917
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Santorelli Filippo M,Mak Suk-Chun,Vazquez-Memije Marta E,Shanske Sara,Kranz-Eble Pamela,Jain Karen D,Bluestone Daniel L,De Vivo Darryl C,Dimauro Salvatore

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference14 articles.

1. SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

2. X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex

3. Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

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2. MT-ATP6mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases;Human Mutation;2019-03-04

3. Advances Towards Therapeutic Approaches for mtDNA Disease;Mitochondria in Health and in Sickness;2019

4. Periodic paralysis;Neurogenetics, Part II;2018

5. Mitochondrial DNA-related disorders: emphasis on mechanisms and heterogeneity;TURKISH JOURNAL OF BIOLOGY;2015

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