Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
J Med Genet
; 45(7): 473-8, 2008 Jul.
Article
in En
| MEDLINE
| ID: mdl-18593870
ABSTRACT
BACKGROUND:
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.METHODS:
14 patients with EE were investigated for mutations in the ETHE1 gene.RESULTS:
Of the 14 patients, 5 were found to carry novel mutations.CONCLUSIONS:
This work expands our knowledge of the causative mutations of EE.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mutation, Missense
/
Brain Diseases, Metabolic, Inborn
/
Nucleocytoplasmic Transport Proteins
/
Mitochondrial Proteins
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
J Med Genet
Year:
2008
Type:
Article
Affiliation country:
Italy