A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
Journal of Clinical Neurology
;
: 280-282, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-55539
ABSTRACT
BACKGROUND:
GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T).CONCLUSIONS:
This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fosfotransferasas
/
Elevación
/
Ácido N-Acetilneuramínico
/
Extremidad Inferior
/
Miopatías Distales
/
Enfermedades Musculares
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Inglés
Revista:
Journal of Clinical Neurology
Año:
2013
Tipo del documento:
Artículo
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