A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
Journal of Clinical Neurology
;
: 280-282, 2013.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phosphotransferases
/
Levage
/
Acide N-acétyl-neuraminique
/
Membre inférieur
/
Myopathies distales
/
Maladies musculaires
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Grossesse
langue:
Anglais
Texte intégral:
Journal of Clinical Neurology
Année:
2013
Type:
Article
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