A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement.
Neurology
; 61(1): 128-31, 2003 Jul 08.
Article
em En
| MEDLINE
| ID: mdl-12847175
ABSTRACT
The authors report a 41-year-old man with a novel form of adult-onset autophagic vacuolar myopathy (AVM) with multiple organ involvement including eyes, heart, liver, lung, kidney, and skeletal muscle. The vacuolar membranes had sarcolemmal features similar to vacuoles in Danon disease, X-linked myopathy with excessive autophagy, and infantile AVM. Lysosome associated membrane protein-2, absent in Danon disease, was present. Defined by distinct clinical features, this disease constitutes the fourth entity in the group of autophagic vacuolar myopathy in which the vacuolar membranes have features of sarcolemma.
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Base de dados:
MEDLINE
Assunto principal:
Autofagia
/
Vacúolos
/
Músculo Esquelético
/
Doenças Musculares
/
Cardiomiopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Japão