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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| rdf:type | |
| rdfs:comment |
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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| uniprot:name |
Neurology
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| uniprot:author |
Dalakas M.C.,
Raju R.,
Vasconcelos O.M.
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| uniprot:date |
2002
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| uniprot:pages |
1776-1779
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| uniprot:title |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
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| uniprot:volume |
59
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