Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
Neuromuscul Disord
; 18(2): 167-74, 2008 Feb.
Article
en En
| MEDLINE
| ID: mdl-18061453
ABSTRACT
This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy. Analysis by electron microscopy of the quadriceps muscle from the proband and his brother showed abnormal mitochondria, and immunohistochemistry revealed no expression of LAMP-2 protein. This defect is due to a yet undescribed mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in the proband.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad por Depósito de Glucógeno de Tipo IIb
/
Proteínas de Membrana de los Lisosomas
Límite:
Adolescent
/
Adult
/
Female
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Humans
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Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
España