Mitochondrial respiratory chain disorder in two Filipino children
Acta Medica Philippina
;
: 76-80, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-631855
ABSTRACT
Mitochondrial respiratory chain disorders have very diverse manifestations and can present with any symptom, in any organ at any time. Here we describe two Filipino children confirmed to have a mitochondrial respiratory chain disorder after presenting with non-specific neurologic symptoms. The first patient had Otahara syndrome and was later on found to have complex I deficiency. The second patient had the m.8993T>G mtDNA mutation that was consistent with a Leigh phenotype.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doenças Mitocondriais
/
Doenças Metabólicas
/
Doenças Nutricionais e Metabólicas
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2011
Tipo de documento:
Artigo
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