Genetics of GNE myopathy in the non-Jewish Persian population-Reference-Cited by-同舟云学术

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Genetics of GNE myopathy in the non-Jewish Persian population

Published:2015-05-13 Issue:2 Volume:24 Page:243-251
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Haghighi Alireza,Nafissi Shahriar,Qurashi Abrar,Tan Zheng,Shamshiri Hosein,Nilipour Yalda,Haghighi Amirreza,Desnick Robert J,Kornreich Ruth

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201578.pdf

Reference50 articles.

1. Argov Z, Yarom R : "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 1984; 64: 33–43.

2. Sadeh M, Gadoth N, Hadar H, Ben-David E : Vacuolar myopathy sparing the quadriceps. Brain 1993; 116 (Pt 1): 217–232.

3. Nonaka I, Noguchi S, Nishino I : Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. Curr Neurol Neurosci Rep 2005; 5: 61–65.

4. Krause S, Schlotter-Weigel B, Walter MC et al: A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord 2003; 13: 830–834.

5. Argov Z, Eisenberg I, Grabov-Nardini G et al: Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology 2003; 60: 1519–1523.

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4. Neuromuscular disorders: finding the missing genetic diagnoses;Trends in Genetics;2022-09

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