BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency
| Autor: | Richard J Mackay, Christopher M. Florkowski, Callum Wilson, Adrienne M Lynn, Richard I King |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Genetics
Male Mutation BCS1L Clinical Biochemistry GRACILE syndrome Infant Newborn General Medicine Syndrome Biology medicine.disease Pathogenicity medicine.disease_cause Phenotype Electron Transport Complex III Complex iii deficiency medicine ATPases Associated with Diverse Cellular Activities Humans BCS1L gene Sequence variation |
| Zdroj: | Annals of clinical biochemistry. 49(Pt 2) |
| ISSN: | 1758-1001 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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