Article
CBG Santiago: a novel CBG mutation.
The Journal of clinical endocrinology and metabolism - 1 Jan 2012
Torpy D J, Lundgren B Ardesjö, Ho J T, Lewis J G, Scott H S, Mericq V
Abstract excerpt
CONTEXT: Corticosteroid-binding globulin (CBG; SERPIN A6) gene mutations are rare; only four mutations have been described, often in association with fatigue and chronic pain, albeit with incomplete penetrance. PATIENT: We report a kindred with a novel SERPINA6 mutation. The proband, a 9-yr-old male, had excessive postexertional fatigue, weakness, and migraine. MAIN OUTCOME MEASURES AND RESULTS: Investigations...
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