Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Mol Genet Metab
; 134(3): 267-273, 2021 11.
Article
in En
| MEDLINE
| ID: mdl-34620555
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Metalloendopeptidases
/
Mitochondrial Diseases
/
Cardiomyopathies
Type of study:
Diagnostic_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2021
Type:
Article
Affiliation country:
France