GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.
Yabe
I
I
Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan. yabe@med.hokudai.ac.jp
Higashi
T
T
Kikuchi
S
S
Sasaki
H
H
Fukazawa
T
T
Yoshida
K
K
Tashiro
K
K
D000328:Adult; D019943:Amino Acid Substitution; D002238:Carbohydrate Epimerases / Q000235:genetics*; D003238:Connective Tissue / Q000473:pathology; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009220:Myositis / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014617:Vacuoles / Q000473:pathology
D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D017853:Phosphotransferases (Alcohol Group Acceptor); C018765:N-acylmannosamine kinase; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase