首页/数据集/Clinical and molecular genetic characteristics of the CPEO cohort.

Clinical and molecular genetic characteristics of the CPEO cohort.

NIAID Data Ecosystem2026-03-07 收录

数据链接：

https://figshare.com/articles/dataset/_Clinical_and_molecular_genetic_characteristics_of_the_CPEO_cohort_/809809 数据链接链接失效反馈

官方服务：

资源简介：

EOM = extraocular muscle; F = female; M = male.

应用场景：

创建时间：

2013-09-27

线粒体疾病遗传

病例对照研究

BackgroundMitochondrial DNA (mtDNA) variation (i.e. haplogroups) has been analyzed in regards to a number of multifactorial diseases. The statistical power of a case-control study determines the a pri

Figshare2016-01-18 更新90

Laboratory findings of children with mitochondrial disease.

线粒体疾病遗传

实验室诊断

ND = not determined, CSF = cerebrospinal fluid; CPEO = chronic progressive external opthalmoplagia, MELAS = Mitochondrial encephalopathy lactic acidosis and stroke like episodes. Normal range for CSF

NIAID Data Ecosystem80

Transcriptome data of mitochondrial dysfunctions

线粒体疾病遗传

转录组学分析

This is a collection of transcriptome data sets related to mitochondrial dysfunctions and their possible treatment. It collects published data sets and re-processes them with a common procedure for th

Figshare2016-01-18 更新30

Mitochondrial Diseases Flagship

线粒体疾病遗传

基因组临床解读

Collection of demographic, clinical minimum dataset, genomic variant interpretation data.

DataCite Commons2020-09-22 更新90

Supplementary Material for: Macrocytosis in Mitochondrial DNA Deletion Syndromes

线粒体疾病遗传

遗传代谢病

Large single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive e

DataCite Commons2023-10-24 更新60

Clinical and molecular genetic characteristics of the CPEO cohort.

资源简介：

相关数据集