Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Indian J Ophthalmol ; 68(11): 2567-2569, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33120694

RESUMO

Sengers syndrome is a rare autosomal recessive mitochondrial disorder characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy. We report two siblings with known mutation for Sengers Syndrome (AGK gene mutation) who presented to us with cataract and hypertrophic cardiomyopathy. They have a deceased elder sibling who was operated for cataract earlier.


Assuntos
Cardiomiopatias , Catarata , Idoso , Catarata/diagnóstico , Catarata/genética , Criança , Humanos , Mutação , Linhagem , Fosfotransferases (Aceptor do Grupo Álcool)/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...