Distal myopathy due to mutations of GNE gene: Clinical spectrum and diagnosis;Myopathies distales avec mutations du gène GNE : à propos de quatre cas

Revue Neurologique

Volumn 164, Issue 5, 2008, Pages 434-443

  Behin A ^a   Dubourg, O ^a   Laforet P ^a   Pecheux C ^b   Bernard, R ^b   Levy N ^b   Eymard, B ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

Distal myopathy; GNE; Nonaka myopathy; Rimmed vacuoles

Indexed keywords

URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; AGED; ARTICLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; DISTAL MYOPATHY; ELECTROMYOGRAM; FEMALE; GENE; GENE MUTATION; GENE STRUCTURE; GNE GENE; HISTOPATHOLOGY; HUMAN; MALE; MUSCLE BIOPSY; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE;

ADIPOSE TISSUE; ADULT; AGED; DISTAL MYOPATHIES; ELECTROMYOGRAPHY; FEMALE; HUMANS; LEG; MALE; MIDDLE AGED; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); TENDONS; TOMOGRAPHY, X-RAY COMPUTED; WASTING SYNDROME;

EID: 45949100777     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2008.02.040     Document Type: Article

References (29)

1. Argov Z., and Yarom R. « Rimmed vacuole myopathy » sparing the quadriceps: a unique disorder in Iranian Jews. J. Neurol. Sci. 64 (1984) 33-43
2. Argov Z., Eisenberg I., Grabov-Nardini G., et al. Hereditary inclusion body myopathy. Neurology 60 (2003) 1519-1523
3. Asaka T., Ikeuchi K., Okino S., et al. Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy). J. Hum. Genet. 46 (2001) 649-655
4. Askanas V., Sarkozi E., Bilak M., et al. Human muscle macrophages express beta-amyloid precursor and prion proteins and their mRNAs. Neuroreport 6 (1995) 1045-1049
5. Broccolini A., Gliubizzi C., Pavoni E., et al. Alpha-dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy. Neuromuscul. Dis. 15 (2005) 177-184
6. Broccolini A., Gidaro T., De Cristofaro R., et al. Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. J. Neurochem. (2008) [sous presse, article disponible en ligne]
7. Eisenberg I., Avidan N., Potikha, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29 (2001) 83-87
8. Huizing M., Rakocevic G., Sparks S.E., et al. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol. Genet. Metab. 81 (2004) 196-202
9. Ikeuchi T., Asaka T., Saito M., et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann. Neurol. 41 (1997) 432-437
10. Kayashima T., Matsuo H., Satoh A., et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J. Hum. Genet. 47 (2002) 77-79
11. Kim B.J., Ki C.S., Kim J.W., et al. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J. Hum. Genet. 51 (2006) 840
12. Kumamoto T., Fujimoto S., Nagao S., et al. Proteasomes in distal myopathy with rimmed vacuoles. Intern. Med. 37 (1998) 746-752
13. Liewluck T., Pho-Iam T., Limwongse C., et al. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve 34 (2006) 775-778
14. Malicdan M.C., Noguchi S., Nonaka I., et al. A GNE knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum. Mol. Genet. 16 (2007) 115-128
15. Mirabella M., Alvarez R.B., Bilak M., et al. Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J. Neuropathol. Exp. Neurol. 55 (1996) 774-786
16. Nishino I., Noguchi S., Murayama K., et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 59 (2002) 1689-1693
17. Nishino I., Malicdan C.V., Murayama K., et al. Molecular pathomechanism of distal myopathy with rimmed vacuoles. Acta myologica 24 (2005) 80-83
18. Noguchi S., Keira Y., Murayama K., et al. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J. Biol. Chem. 19 (2004) 11402-11407
19. Nonaka I., Sunohara N., Ishiura S., et al. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J. Neurol. Sci. 51 (1981) 141-155
20. Nonaka I., Sunohara N., Satoyoshi E., et al. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. Ann. Neurol. 17 (1985) 51-59
21. Pénisson-Besnier I. Myopathies distales. Rev Neurol (Paris) 160 (2004) 211-216
22. Ricci E., Broccolini A., Gidaro T., et al. NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. Neurology 66 (2006) 755-758
23. Salama I., Hinderlich S., Shlomai Z., et al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem. Biophys. Res. Commun. 328 (2005) 221-226
24. Selcen D., and Engel A. Myofibrillar myopathies. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology Vol.2 (2004) p. 1187-1202
25. Tommimitsu H., Ishikawa K., and Shimizu J. Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Neurology 59 (2002) 451-454
26. Udd B., and Griggs R.C. Distal myopathies. In: Engel A.G., and Franzini-Armstrong C. (Eds). Myology vol. 2 (2004) p. 1169-1185
27. Wallgren-Petterson C., Lehtokari V.L., Kalimo H., et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 130 (2007) 1465-1476
28. Yabe I., Higashi T., Kikushi S., et al. GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology 61 (2003) 384-386
29. Yan C., Ikezoe K., and Nonaka I. Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles. Acta Neuropathol (Berl) 101 (2001) 9-16