Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.
Two muscle dystrophin transcripts and proteins were detected in a 17-year-old boy with a persistently elevated serum creatine kinase level. A decreased amount of full-length dystrophin and a 360 kDa polypeptide lacking the COOH-terminus were detectable in the patient's muscle biopsy; accordingly, transcript analysis revealed the expression of a wild type messenger RNA together with a shorter frameshifted one. No genomic DNA mutation was found and the presence of a somatic mosaicism was excluded. This dystrophinopathy may be caused by a novel dystrophin gene transcriptional defect, namely aberrant intraexonic splicing.
Cagliani
R
R
IRCCS E Medea, Associazione La Nostra Famiglia, Via Don Luigi Monza 20, 23842, Bosisio Parini (LC), Italy. msironi@bp.lnf.it
Bardoni
A
A
Sironi
M
M
Fortunato
F
F
Prelle
A
A
Felisari
G
G
Bonaglia
M C
MC
D'Angelo
M G
MG
Moggio
M
M
Bresolin
N
N
Comi
G P
GP
D000293:Adolescent; D015153:Blotting, Western; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005091:Exons; D006801:Humans; D007150:Immunohistochemistry; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009030:Mosaicism / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D010446:Peptide Fragments / Q000235:genetics / Q000378:metabolism; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
D016189:Dystrophin; D010446:Peptide Fragments; D012333:RNA, Messenger