The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype

Neurological Sciences

Volumn 31, Issue 3, 2010, Pages 377-380

  Grandis, Marina ^a   Gulli, Rossella ^a   Cassandrini, Denise ^a   Gazzerro, Elisabetta ^a   Benedetti, Luana ^a   Narciso, Eleonora ^a   Nobbio, Lucilla ^a   Bruno, Claudio ^a   Minetti, Carlo ^a   Bellone, Emilia ^a   Reni, Lizia ^a   Mancardi, Giovanni Luigi ^a   Mandich, Paola ^a   Schenone, Angelo ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (IBM2); Middle Eastern Jewish founder mutation; Nonaka myopathy; Rimmed vacuoles; UDP N Acetylglucosamine 2 epimerase N acetylmannosamine kinase (GNE)

Indexed keywords

CREATINE KINASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; MULTIENZYME COMPLEX; UDP N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DETERIORATION; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; ELECTROMYOGRAM; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INCLUSION BODY MYOSITIS; LABORATORY TEST; LIMB WEAKNESS; MALE; MOSLEM; MOTOR UNIT POTENTIAL; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; ALLELE; DISEASE COURSE; EGYPT; GENETICS; ITALY; MISSENSE MUTATION; PATHOLOGY; PHENOTYPE; RELIGION; SKELETAL MUSCLE;

ADULT; ALLELES; DISEASE PROGRESSION; EGYPT; FEMALE; HUMANS; ISLAM; ITALY; MALE; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; PHENOTYPE; YOUNG ADULT;

EID: 77955912122     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-010-0248-y     Document Type: Article

References (13)

1. Argov Z, Yarom R (1984) "Rimmed vacuolar myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 64:33-43
2. Sadeh M, Gadoth N, Hadar H et al (1993) Vacuolar myopathy sparing the quadriceps. Brain 116:217-232
3. Eisenberg I, Avidan N, Potikha T et al (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 29:83-87
4. Argov Z, Eisenberg I, Grabov-Nardini G et al (2003) Hereditary inclusion body myopathy: The Middle Eastern genetic cluster. Neurology 60:1519-1523
5. Nonaka I, Sunohara N, Ishiura S et al (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 51:141-155
6. Nishino I, Noguchi S, Murayama K et al (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 59:1689-1693
7. Eisenberg I, Grabov-Nardini G, Hochner H et al (2003) Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 21:99-105
8. Liewluck T, Pho-Iam T, Limwongse C et al (2006) Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve 34:775-778
9. Chu CC, Kuo HC, Yeh TH et al (2007) Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. Clin Neurol Neurosurg 109:250-256
10. Malicdan MC, Noguchi S, Nonaka I et al (2007) Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 16:2669-2682 (Pubitemid 350018509)
11. Malicdan MC, Noguchi S, Hayashi YK et al (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 15:690-695
12. Ricci E, Broccolini A, Gidaro T et al (2006) NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. Neurology 66:755-758
13. Béhin A, Dubourg O, Laforêt P et al (2008) Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis. Rev Neurol (Paris) 64:434-443