Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Hum Mutat
; 40(6): 734-741, 2019 06.
Article
in En
| MEDLINE
| ID: mdl-30908796
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cardiomyopathy, Dilated
/
Sequence Deletion
/
Desmin
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Hum Mutat
Journal subject:
GENETICA MEDICA
Year:
2019
Type:
Article
Affiliation country:
RUSSIA