Abstract
Cognitive impairment in Duchenne muscular dystrophy (DMD) represents a common feature of the clinical picture. Apodystrophin Dp 140 is a recently isolated brain-specific fetal isoform coded in the distal part of the gene, commonly deleted in DMD, and its lack is supposed to account for intellectual impairment early in development. In order to test this hypothesis we reviewed 70 DMD patients: statistical comparison between full IQ (FIQ) levels in the group with proximal deletion (D1+D2, see text for details) and the one with distal deletions (D3, including the region for Dp 140 synthesis) resulted significant (p
| Original language | Italian |
|---|---|
| Pages (from-to) | 83-88 |
| Number of pages | 6 |
| Journal | SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione |
| Volume | 24 |
| Issue number | 2 |
| Publication status | Published - 1998 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neuroscience(all)
- Psychology(all)
Cite this
Elevata incidenza di ritardo mentale in pazienti affetti da distrofia di duchenne e delezione nel dominio distale del gene : Effetti della mancata espressione della apo-distrofina Dp 140? / Felisari, G.; Martinelli, F.; Robotti, M.; Turconi, A. C.; Salandi, A.; Lai, M.; Comi, G. P.; Bresolin, N.
In: SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione, Vol. 24, No. 2, 1998, p. 83-88.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Elevata incidenza di ritardo mentale in pazienti affetti da distrofia di duchenne e delezione nel dominio distale del gene
T2 - Effetti della mancata espressione della apo-distrofina Dp 140?
AU - Felisari, G.
AU - Martinelli, F.
AU - Robotti, M.
AU - Turconi, A. C.
AU - Salandi, A.
AU - Lai, M.
AU - Comi, G. P.
AU - Bresolin, N.
PY - 1998
Y1 - 1998
N2 - Cognitive impairment in Duchenne muscular dystrophy (DMD) represents a common feature of the clinical picture. Apodystrophin Dp 140 is a recently isolated brain-specific fetal isoform coded in the distal part of the gene, commonly deleted in DMD, and its lack is supposed to account for intellectual impairment early in development. In order to test this hypothesis we reviewed 70 DMD patients: statistical comparison between full IQ (FIQ) levels in the group with proximal deletion (D1+D2, see text for details) and the one with distal deletions (D3, including the region for Dp 140 synthesis) resulted significant (p
AB - Cognitive impairment in Duchenne muscular dystrophy (DMD) represents a common feature of the clinical picture. Apodystrophin Dp 140 is a recently isolated brain-specific fetal isoform coded in the distal part of the gene, commonly deleted in DMD, and its lack is supposed to account for intellectual impairment early in development. In order to test this hypothesis we reviewed 70 DMD patients: statistical comparison between full IQ (FIQ) levels in the group with proximal deletion (D1+D2, see text for details) and the one with distal deletions (D3, including the region for Dp 140 synthesis) resulted significant (p
KW - Apo-dystrophin
KW - Duchenne muscular dystrophy
KW - Mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0032420777&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032420777&partnerID=8YFLogxK
M3 - Articolo
VL - 24
SP - 83
EP - 88
JO - SAGGI - Child Development and Disabilities
JF - SAGGI - Child Development and Disabilities
SN - 0390-5179
IS - 2
ER -