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?

G. Felisari; F. Martinelli; M. Robotti; A. C. Turconi; A. Salandi; M. Lai; G. P. Comi; N. Bresolin

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?

Translated title of the contribution: Mental retardation in duchenne muscular dystrophy patients deleted in the distal domain of the gene: Effect of unexpressed Dp 140 apo-dystrophin?

G. Felisari, F. Martinelli, M. Robotti, A. C. Turconi, A. Salandi, M. Lai, G. P. Comi, N. Bresolin

Research output: Contribution to journal › Article › peer-review

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

Translated title of the contribution	Mental retardation in duchenne muscular dystrophy patients deleted in the distal domain of the gene: Effect of unexpressed Dp 140 apo-dystrophin?
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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neuroscience(all)
Psychology(all)

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Felisari, G., Martinelli, F., Robotti, M., Turconi, A. C., Salandi, A., Lai, M., Comi, G. P., & Bresolin, N. (1998). 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? SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione, 24(2), 83-88.

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 › peer-review

Felisari, G, Martinelli, F, Robotti, M, Turconi, AC, Salandi, A, Lai, M, Comi, GP & Bresolin, N 1998, '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?', SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione, vol. 24, no. 2, pp. 83-88.

Felisari, G. ; Martinelli, F. ; Robotti, M. ; Turconi, A. C. ; Salandi, A. ; Lai, M. ; Comi, G. P. ; Bresolin, N. / 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?. In: SAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione. 1998 ; Vol. 24, No. 2. pp. 83-88.

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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",

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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?

Abstract

ASJC Scopus subject areas

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