Keyphrases
Muscular Dystrophy
100%
Mitochondrial DNA Depletion
100%
MSTO1
100%
Mitochondrial Fusion
40%
Pathogenic Variants
26%
Mitochondrial DNA
20%
MtDNA Depletion
20%
Fibroblasts
13%
Fusion Protein
13%
Biallelic
13%
Patient Fibroblasts
13%
Protein Expression
6%
Natural History
6%
Early Onset
6%
Loss Function
6%
Pathogenic Mechanism
6%
Gain-of-function mutation
6%
Dystrophic
6%
Functional Characterization
6%
Nucleoid
6%
Cerebellar Ataxia
6%
Mitochondrial Disease
6%
Genotype-phenotype
6%
Corticospinal Tract
6%
Myopathic
6%
Genetic Data
6%
Mechanistic Insight
6%
Mitochondrial Fission
6%
Disease Pathogenesis
6%
Protein Stability
6%
Phenotypic Data
6%
Non-progressive
6%
Cultured Fibroblasts
6%
Pathological Findings
6%
Allelic Loss
6%
Childhood-onset
6%
Mitochondrial Network
6%
Mitochondrial DNA Content
6%
Clinical Spectrum
6%
Pigmentary Retinopathy
6%
Cerebellar Atrophy
6%
Mitochondrial DNA Maintenance
6%
Muscle Involvement
6%
DNA Regulation
6%
Number of Patients
6%
New Patients
6%
Independent Families
6%
Biochemistry, Genetics and Molecular Biology
Mitochondrial Fusion
100%
Mitochondrial DNA Depletion
100%
Fibroblast
83%
Mitochondrial DNA
83%
Mitochondrial DNA Depletion Syndrome
50%
Chimeric Protein
33%
Genetics
16%
Nucleoid
16%
Protein Expression
16%
Mitochondrial Disease
16%
Protein Stability
16%
DNA Content
16%
Mitochondrial Fission
16%