Adhalin deficiency: an unusual cause of muscular dystrophy.
Indian J Pediatr
;
2001 Nov; 68(11): 1083-5
Artículo
en Inglés
| IMSEAR
| ID: sea-84392
ABSTRACT
Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from India.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Biopsia con Aguja
/
Índice de Severidad de la Enfermedad
/
Humanos
/
Masculino
/
Recién Nacido
/
Inmunohistoquímica
/
Glicoproteínas de Membrana
/
Distrofia Muscular de Duchenne
/
Proteínas del Citoesqueleto
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2001
Tipo del documento:
Artículo
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