|
1
|
Nishino I, Noguchi S, Murayama K, Driss A,
Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, et al:
Distal myopathy with rimmed vacuoles is allelic to hereditary
inclusion body myopathy. Neurology. 59:1689–1693. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Argov Z and Yarom R: ‘Rimmed vacuole
myopathy’ sparing the quadriceps. A unique disorder in Iranian
Jews. J Neurol Sci. 64:33–43. 1984. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Kayashima T, Matsuo H, Satoh A, Ohta T,
Yoshiura K, Matsumoto N, Nakane Y, Niikawa N and Kishino T: Nonaka
myopathy is caused by mutations in the
UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene
(GNE). J Hum Genet. 47:77–79. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Eisenberg I, Avidan N, Potikha T, Hochner
H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini
G, et al: The UDP-N-acetylglucosamine
2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive
hereditary inclusion body myopathy. Nat Genet. 29:83–87. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Huizing M and Krasnewich DM: Hereditary
inclusion body myopathy: A decade of progress. Biochim Biophys
Acta. 1792:881–887. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Singh R and Arya R: GNE myopathy and cell
apoptosis: A comparative mutation analysis. Mol Neurobiol.
53:3088–3101. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Nishino I, Carrillo-Carrasco N and Argov
Z: GNE myopathy: Current update and future therapy. J Neurol
Neurosurg Psychiatry. 86:385–392. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Nonaka I, Noguchi S and Nishino I: Distal
myopathy with rimmed vacuoles and hereditary inclusion body
myopathy. Curr Neurol Neurosci Rep. 5:61–65. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Mori-Yoshimura M, Oya Y, Yajima H,
Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I and
Murata M: GNE myopathy: A prospective natural history study of
disease progression. Neuromuscul Disord. 24:380–386. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Mori-Yoshimura M, Monma K, Suzuki N, Aoki
M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J,
et al: Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine
kinase domain mutations in the GNE gene result in a less severe GNE
myopathy phenotype compared to homozygous N-acetylmannosamine
kinase domain mutations. J Neurol Sci. 318:100–105. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Mori-Yoshimura M, Oya Y, Hayashi YK,
Noguchi S, Nishino I and Murata M: Respiratory dysfunction in
patients severely affected by GNE myopathy (distal myopathy with
rimmed vacuoles). Neuromuscul Disord. 23:84–88. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Celeste FV, Vilboux T, Ciccone C, de Dios
JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco
N and Huizing M: Mutation update for GNE gene variants associated
with GNE myopathy. Hum Mutat. 35:915–926. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Lu X, Pu C, Huang X, Liu J and Mao Y:
Distal myopathy with rimmed vacuoles: Clinical and muscle
morphological characteristics and spectrum of GNE gene mutations in
53 Chinese patients. Neurol Res. 33:1025–1031. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Liu N, Wang ZK, Wang HX, Li Y, Niu ZH and
Yu XF: Muscle biopsy and UDP-N-acetylglucosamine
2-epimerase/N-acetylmannosamine kinase gene mutation analysis in
two Chinese patients with distal myopathy with rimmed vacuoles.
Neuroreport. 26:598–601. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Zhao J, Wang Z, Hong D, Lv H, Zhang W,
Chen J and Yuan Y: Mutational spectrum and clinical features in 35
unrelated mainland Chinese patients with GNE myopathy. J Neurol
Sci. 354:21–26. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Huizing M, Carrillo-Carrasco N, Malicdan
MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z and Nishino I:
GNE myopathy: New name and new mutation nomenclature. Neuromuscul
Disord. 24:387–389. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Cho A, Hayashi YK, Monma K, Oya Y, Noguchi
S, Nonaka I and Nishino I: Mutation profile of the GNE gene in
Japanese patients with distal myopathy with rimmed vacuoles (GNE
myopathy). J Neurol Neurosurg Psychiatry. 85:914–917. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Jay CM, Levonyak N, Nemunaitis G, Maples
PB and Nemunaitis J: Hereditary inclusion body myopathy (HIBM2).
Gene Regul Syst Bio. 3:181–190. 2009.PubMed/NCBI
|
|
19
|
Tomimitsu H, Shimizu J, Ishikawa K,
Ohkoshi N, Kanazawa I and Mizusawa H: Distal myopathy with rimmed
vacuoles (DMRV): New GNE mutations and splice variant. Neurology.
62:1607–1610. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Sivakumar K and Dalakas MC: The spectrum
of familial inclusion body myopathies in 13 families and a
description of a quadriceps-sparing phenotype in non-Iranian Jews.
Neurology. 47:977–984. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Liewluck T, Pho-Iam T, Limwongse C,
Thongnoppakhun W, Boonyapisit K, Raksadawan N, Murayama K, Hayashi
YK, Nishino I and Sangruchi T: Mutation analysis of the GNE gene in
distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
Muscle Nerve. 34:775–778. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC
and Kim SH: Mutation analysis of the GNE gene in Korean patients
with distal myopathy with rimmed vacuoles. J Hum Genet. 51:137–140.
2006. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Broccolini A, Pescatori M, D'Amico A,
Sabino A, Silvestri G, Ricci E, Servidei S, Tonali PA and Mirabella
M: An Italian family with autosomal recessive inclusion-body
myopathy and mutations in the GNE gene. Neurology. 59:1808–1809.
2002. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Kalaydjieva L, Lochmüller H, Tournev I,
Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi
V, King R, et al: 125th ENMC international workshop: Neuromuscular
disorders in the Roma (Gypsy) population, 23–25 April 2004,
naarden, the Netherlands. Neuromuscul Disord. 15:65–71. 2005.
View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Eisenberg I, Grabov-Nardini G, Hochner H,
Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K,
Mendell J, et al: Mutations spectrum of GNE in hereditary inclusion
body myopathy sparing the quadriceps. Hum Mutat. 21:992003.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Sim JE, Park HJ, Shin HY, Nam TS, Kim SM
and Choi YC: Clinical characteristics and molecular genetic
analysis of Korean patients with GNE myopathy. Yonsei Med J.
54:578–582. 2013. View Article : Google Scholar : PubMed/NCBI
|
