Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy).
Neurology
; 45(11): 2099-101, 1995 Nov.
Article
en En
| MEDLINE
| ID: mdl-7501167
ABSTRACT
Muscular dystrophy may be caused by disturbances in a number of muscle proteins that appear to be part of a chain of interacting molecules that includes cytoskeletal, cell membrane, and basement membrane components. We found that the skeletal muscle cells in two cases of Walker-Warburg syndrome were severely deficient in the laminin beta 2 chain and in adhalin. The findings indicate that these two proteins are key molecules in the interactive protein complex conferring muscle stability and cell survival.
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Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Glicoproteínas de Membrana
/
Anomalías del Ojo
/
Laminina
/
Proteínas del Citoesqueleto
/
Músculos
/
Distrofias Musculares
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
1995
Tipo del documento:
Article
País de afiliación:
Dinamarca