BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
Ann Clin Biochem
; 49(Pt 2): 201-3, 2012 Mar.
Article
em En
| MEDLINE
| ID: mdl-22277166
ABSTRACT
The clinical presentation of a neonate with GRACILE-like syndrome, complex III deficiency and BCS1L mutations is discussed. This case is compared and contrasted with the original Finnish reports of GRACILE syndrome and other cases with a similar phenotype. This case confirms the pathogenicity of the BCS1L gene mutation c.166C>T, and provides support for the pathogenicity of a sequence variation, c.-588T>A, previously reported.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Complexo III da Cadeia de Transporte de Elétrons
/
Mutação
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article