Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy.
We report on a patient with the typical clinical findings of Emery-Dreifuss muscular dystrophy due to a mutation in the emerin gene that should have produced a higher molecular weight protein. Immunohistochemical analysis showed emerin localized only in the cytoplasm of muscle fibres and lymphoblastoid cells. The emerin molecule contained the nucleoplasmic domain and the transmembrane domain responsible for nuclear membrane targeting, so its incorrect localization and lack of function could be due to abnormal folding resulting in rapid degradation or inability to bind other nuclear proteins.
Di Blasi
C
C
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico C. Besta, Via Celoria 11, 20133 Milan, Italy.
Morandi
L
L
Raffaele di Barletta
M
M
Bione
S
S
Bernasconi
P
P
Cerletti
M
M
Bono
R
R
Blasevich
F
F
Toniolo
D
D
Mora
M
M
D000293:Adolescent; D003593:Cytoplasm / Q000378:metabolism / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009685:Nuclear Envelope / Q000378:metabolism / Q000648:ultrastructure; D009687:Nuclear Proteins; D017434:Protein Structure, Tertiary / Q000235:genetics; D013946:Thymopoietins / Q000235:genetics* / Q000378:metabolism*
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin