SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
Eur J Pediatr
; 175(8): 1113-8, 2016 Aug.
Article
in En
| MEDLINE
| ID: mdl-26780752
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Myopathies, Structural, Congenital
/
Selenoproteins
/
Muscle Proteins
/
Mutation
/
Neck Muscles
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Eur J Pediatr
Year:
2016
Document type:
Article
Affiliation country:
Italia