Muscle imaging findings in GNE myopathy

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 · 522 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 479 citations · Full text

Developmental Biology, Skeletal Muscle, Genetic Disorder +8

“Rimmed vacuole myopathy” sparing the quadriceps

Zohar Argov, R. Yarom · Journal of the Neurological Sciences · 1984 · 268 citations

Health Sciences, Medicine, Applied Physiology +5

Distinct muscle imaging patterns in myofibrillar myopathies

Dirk Fischer, Rudolf A. Kley, Katharina Strach et al. · Neurology · 2008 · 252 citations · Full text

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

Ichizo Nishino, S. Noguchi, K. Murayama et al. · Neurology · 2002 · 240 citations