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.
Original language | English (US) |
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Pages (from-to) | 1776-1779 |
Number of pages | 4 |
Journal | Neurology |
Volume | 59 |
Issue number | 11 |
DOIs | |
State | Published - Dec 10 2002 |
Externally published | Yes |
ASJC Scopus subject areas
- Clinical Neurology