Ontology highlight
ABSTRACT:
SUBMITTER: Choi YA
PROVIDER: S-EPMC4496523 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Choi Young-Ah YA Park Sung-Hye SH Yi Youbin Y Kim Keewon K
Annals of rehabilitation medicine 20150630 3
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714 ...[more]