Your browser version may not work well with NCBI's Web applications. More information here...
1: Neurology. 2002 Dec 10;59(11):1776-9.Click here to read Links
Comment in:
Neurology. 2002 Dec 10;59(11):1674-6.

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

Vasconcelos OM, Raju R, Dalakas MC.

Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). Two novel nonallosteric site missense mutations were found in the QS-IBM kinship. No mutations were identified in s-IBM patients. After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy.

PMID: 12473769 [PubMed - indexed for MEDLINE]