X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.
The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is caused by intronic mutation IVS3-27del18 (c.266-27del18) in the emerin gene. The most surprising finding was the appearance of IBM-like inclusions in euchromatin, as well as aberrant nuclei. It may be speculated that altered expression of the emerin-lamin complex and modification of the nuclear matrix leads to formation of tubulofilamentous structures in the presented case.
Fidzianska
A
A
Neuromuscular Unit, Medical Research Center, Polish Academy of Science, Pawinskiego St. 5, Warsaw, Poland. neurmyol@cmdik.pan.pl
Niebrój-Dobosz
I
I
Madej-Pilarczyk
A
A
Duong
N T
NT
Wehnert
M
M
D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D034904:Lamin Type A / Q000172:deficiency*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000378:metabolism / Q000648:ultrastructure; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction
D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin