Keyphrases
Genotype-phenotype Correlation
90%
Exercise Intolerance
90%
Clinical Course
80%
Family Members
80%
SUCLG1
80%
SUCLA2
66%
Mitochondrial Disease
63%
Biallelic
50%
Clinical Spectrum
48%
Genetic Counseling
48%
Age of Onset
48%
Developmental Delay
48%
Seizure
48%
Missense Variants
48%
Lactic Acidosis
44%
Clinical Characterization
40%
Succinyl-CoA Synthetase
40%
Phenotypic Spectrum
40%
Inherited mutation
40%
Novel Locus
40%
Genetic Features
40%
ND1 Gene
40%
Progressive Encephalopathy
40%
Leukoencephalopathy
40%
CUX2
40%
Riboflavin
40%
Disease Course
40%
Scoring System
40%
Limb-girdle
40%
Complex IV Deficiency
40%
Oxidase Assembly
40%
Gene mutation
40%
Maternally Inherited
40%
Early Onset
40%
Myoglobinuria
40%
Congenital Cataract
40%
Faroese
40%
RMND1
40%
Melanocyte Differentiation
40%
Nuclear Division
40%
Fetal Presentation
40%
Clinical Features
40%
Biochemical Features
40%
ELOVL7
40%
ERCC8
40%
Contiguous Gene Deletion
40%
Acyl-CoA Dehydrogenase
40%
NDUFAF2
40%
Intellectual Disability
40%
Mitochondrial DNA Depletion
40%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Electron Transport Chain
87%
SUCLG1
80%
Mitochondrial DNA
73%
SUCLA2
66%
Ligase
53%
Missense
53%
Genotype Phenotype Correlation
50%
Missense Mutation
48%
Genotyping
48%
Homozygosity
46%
Mitochondrial Disease
46%
Mitochondrial DNA Depletion
42%
Gene Mutation
40%
Riboflavin
40%
Intellectual Disability
40%
Leigh's Disease
40%
Autosomal Recessive Inheritance
40%
Tubulin
40%
Melanocyte
40%
Synapsin I
40%
Albinism
40%
SDHB
40%
Transfer RNA
40%
Acyl-CoA
40%
Dehydrogenase
40%
Oxidoreductase
40%
Pelizaeus-Merzbacher Disease
40%
Nuclear Division
40%
Mitochondrial Myopathy
26%
Enzyme
26%
Fibroblast
23%
GRB10
20%
PEG3
20%
KCNQ1OT1
20%
Polyacrylamide Gel Electrophoresis
20%
Retinitis pigmentosa
20%
Translation (Protein Synthesis)
20%
Elongase
20%
Outer Mitochondrial Membrane
20%
Very Long Chain Fatty Acid
20%
Contiguous Gene Syndrome
20%
Mitochondrial Protein
20%
Western Blot
20%
GJC2
20%
Genetic Disorder
20%
Nonsense Mutation
16%
Enzyme Activity
16%
Substrate-Level Phosphorylation
16%
