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Case Reports
. 2002 Dec 10;59(11):1776-9.
doi: 10.1212/01.wnl.0000039780.13681.ad.

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

Olavo M Vasconcelos  1 , Raghavan Raju, Marinos C Dalakas
Affiliations
Case Reports

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

Olavo M Vasconcelos et al. Neurology. .

Abstract

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.

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