Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients-Reference-Cited by-同舟云学术

Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients

Published:2013-05 Issue:5 Volume:17 Page:376-382
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

No Daniel¹,Valles-Ayoub Yadira¹,Carbajo Rosangela¹,Khokher Zeshan¹,Sandoval Lucia¹,Stein Beth²,Tarnopolsky Mark Andrew³,Mozaffar Tahseen⁴,Darvish Babak¹,Pietruszka Marvin¹,Darvish Daniel¹

Affiliation:

1. HIBM Research Group, Reseda, California.

2. Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.

3. Department of Neurology, McMaster University Medical Center, Hamilton, Ontario, Canada.

4. ALS and Neuromuscular Center, Irvine Medical Center, University of California, Orange, California.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2012.0408

Reference17 articles.

1. A method and server for predicting damaging missense mutations

2. “Rimmed vacuole myopathy” sparing the quadriceps

3. Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms

4. Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review

5. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

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