Concepedia

GNE myopathy: New name and new mutation nomenclature

Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan, S. Noguchi, William A. Gahl, Stella Mitrani‐Rosenbaum, Zohar Argov, Ichizo Nishino

Neuromuscular Disorders · 2014 · 83 citations · 8 references

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References

8

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

Iris Eisenberg, Nili Avidan, Tamara Potikha et al. · Nature Genetics · 2001 · 528 citations

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Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

Ikuya Nonaka, N Sunohara, Shoichi Ishiura et al. · Journal of the Neurological Sciences · 1981 · 296 citations

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“Rimmed vacuole myopathy” sparing the quadriceps

Zohar Argov, R. Yarom · Journal of the Neurological Sciences · 1984 · 269 citations

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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Ichizo Nishino, S. Noguchi, K. Murayama et al. · Neurology · 2002 · 243 citations

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Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

Stella Mitrani‐Rosenbaum, Zohar Argov, Anat Blumenfeld et al. · Human Molecular Genetics · 1996 · 105 citations · Full text

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