[Selenoprotein-related muscular dystrophy]. / Selenoproteinrelateret muskeldystrofi.
Ugeskr Laeger
; 173(48): 3116-7, 2011 Nov 28.
Article
en Da
| MEDLINE
| ID: mdl-22118657
ABSTRACT
A nine year-old girl with selenoprotein-related muscular dystrophy was diagnosed. The primary symptom was weak neck muscles. During childhood she developed a rigid spine and over a period of a few years a severe scoliosis. She was compound heterozygote for a mutation in the SEPN1 gene. Experimental treatment with N-acetylcystein for a period of two years was initiated.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Selenoproteínas
/
Proteínas Musculares
/
Distrofias Musculares
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
/
Male
Idioma:
Da
Revista:
Ugeskr Laeger
Año:
2011
Tipo del documento:
Article
País de afiliación:
Dinamarca