In:
Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 62, No. 9 ( 2004-05-11), p. 1607-1610
Abstract:
Study of the UDP- N -acetylglucosamine 2-epimerase/ N -acetylmannosamine kinase gene ( GNE ) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy. In addition, a splice-variant characteristic of the skeletal muscle was found, whereas the difference of the expression level between GNE -mutated and -nonmutated patients was not apparent.
Type of Medium:
Online Resource
ISSN:
0028-3878
,
1526-632X
DOI:
10.1212/01.WNL.0000123115.23652.6C
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2004
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