MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Hum Mutat
; 34(11): 1501-9, 2013 Nov.
Article
in En
| MEDLINE
| ID: mdl-23929671
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Yeasts
/
Cardiomyopathy, Hypertrophic
/
Acidosis, Lactic
/
Carrier Proteins
/
Electron Transport Chain Complex Proteins
/
Mutation
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Hum Mutat
Journal subject:
GENETICA MEDICA
Year:
2013
Document type:
Article
Affiliation country:
Italia
Country of publication:
Estados Unidos