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

Olavo M. Vasconcelos, Raghavan Raju, Marinos C. Dalakas

Research output: Contribution to journalArticle

38 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)1776-1779
Number of pages4
JournalNeurology
Volume59
Issue number11
DOIs
StatePublished - Dec 10 2002

Fingerprint

Mutation
Quadriceps Muscle
Missense Mutation
Disease Progression
Biopsy
Muscles
Inclusion body myopathy autosomal recessive

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. / Vasconcelos, Olavo M.; Raju, Raghavan; Dalakas, Marinos C.

In: Neurology, Vol. 59, No. 11, 10.12.2002, p. 1776-1779.

Research output: Contribution to journalArticle

Vasconcelos, Olavo M. ; Raju, Raghavan ; Dalakas, Marinos C. / GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. In: Neurology. 2002 ; Vol. 59, No. 11. pp. 1776-1779.
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