McArdle's disease: two clinical expressions in the same pedigree.
J Neurol
; 237(4): 267-70, 1990 Jul.
Article
en En
| MEDLINE
| ID: mdl-2391551
ABSTRACT
Two patients with McArdle's disease within the same pedigree and with two different clinical forms are presented. The first patient suffered from progressive muscle weakness and atrophy. Muscle morphology was that of myopathy. Residual activity of phosphorylase was 28% and sodium dodecyl sulphate electrophoresis showed decreased protein. The second case was typical of McArdle's disease, clinically and biochemically. It was concluded that the first patient was a heterozygote (residual activity 28% of normal) and the second was a homozygote, the genetic transmission being autosomal recessive.
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Banco de datos:
MEDLINE
Asunto principal:
Enfermedad del Almacenamiento de Glucógeno Tipo V
Tipo de estudio:
Etiology_studies
Límite:
Adult
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Neurol
Año:
1990
Tipo del documento:
Article
País de afiliación:
Grecia