Prevalence ofGNEp.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran-Reference-Cited by-同舟云学术

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Prevalence ofGNEp.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran

Published:2013-02-21 Issue:6 Volume:84 Page:589-592
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Khademian H¹²,Mehravar E²,Urtizberea JA³,Sagoo S¹,Sandoval L¹⁴,Carbajo R¹⁵,Darvish B¹,Valles-Ayoub Y¹,Darvish D¹

Affiliation:

1. HIBM Research Group; Reseda CA USA

2. Sangesar Charity Organization for HIBM; Sangesar Semnan Iran

3. Hôpital Marin; Hendaye France

4. Department of Life Sciences; Los Angeles Mission College; Sylmar CA USA

5. Department of Biology; California State University Northridge; Northridge CA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation;Nonaka;J Neurol Sci,1981

2. “Rimmed vacuole myopathy” sparing the quadriceps A unique disorder in Iranian Jews;Argov;J Neurol Sci,1984

3. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001

4. Distal myopathy with rimmed vacuoles (DMRV);Ikeuchi;Nippon Rinsho,1997

5. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase;Hinderlich;J Biol Chem,1997

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