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

被引：36

作者：

Vasconcelos, OM ^{[1
]}

Raju, R ^{[1
]}

Dalakas, MC ^{[1
]}

机构：

[1] NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USA

来源：

NEUROLOGY | 2002年 / 59卷 / 11期

关键词：

D O I：

10.1212/01.WNL.0000039780.13681.AD

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1776 / 1779

页数：4

共 10 条

[1]

CHRISTODOULOU K, 1998, ACTA MYOLOGICA, V2, P7

[2] Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments [J].

Effertz, K ;

Hinderlich, S ;

Reutter, W .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (40) :28771-28778

[3] The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy [J].

Eisenberg, I ;

Avidan, N ;

Potikha, T ;

Hochner, H ;

Chen, M ;

Olender, T ;

Barash, M ;

Shemesh, M ;

Sadeh, M ;

Grabov-Nardini, G ;

Shmilevich, I ;

Friedmann, A ;

Karpati, G ;

Bradley, WG ;

Baumbach, L ;

Lancet, D ;

Ben Asher, E ;

Beckmann, JS ;

Argov, Z ;

Mitrani-Rosenbaum, S .

NATURE GENETICS, 2001, 29 (01) :83-87

[4]

GAHL WA, 1996, HDB CLIN NEUROLOGY

[5]

Huizing M, 2002, AM J HUM GENET, V71, P173

[6] Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis [J].

Lucka, L ;

Krause, M ;

Danker, K ;

Reutter, W ;

Horstkorte, R .

FEBS LETTERS, 1999, 454 (03) :341-344

[7] Hereditary inclusion body myopathy maps to chromosome 9p1-q1 [J].

MitraniRosenbaum, S ;

Argov, Z ;

Blumenfeld, A ;

Seidman, CE ;

Seidman, JG .

HUMAN MOLECULAR GENETICS, 1996, 5 (01) :159-163

[8]

PALOSAARI PM, 1990, J BIOL CHEM, V265, P2446

[9] The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews [J].

Sivakumar, K ;

Dalakas, MC .

NEUROLOGY, 1996, 47 (04) :977-984

[10] Distal myopathy with rimmed vacuoles:: Novel mutations in the GNE gene [J].

Tomimitsu, H ;

Ishikawa, K ;

Shimizu, J ;

Ohkoshi, N ;

Kanazawa, I ;

Mizusawa, H .

NEUROLOGY, 2002, 59 (03) :451-454

← 1 →