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 journalArticle

1 Citation (Scopus)

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 languageItalian
Pages (from-to)83-88
Number of pages6
JournalSAGGI - Neuropsicologia Infantile Psicopedagogia Riabilitazione
Volume24
Issue number2
Publication statusPublished - 1998

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Dystrophin
Duchenne Muscular Dystrophy
Intellectual Disability
Genes
Protein Isoforms
Brain

ASJC Scopus subject areas

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

Cite this

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title = "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 = "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",
keywords = "Apo-dystrophin, Duchenne muscular dystrophy, Mental retardation",
author = "G. Felisari and F. Martinelli and M. Robotti and Turconi, {A. C.} and A. Salandi and M. Lai and Comi, {G. P.} and N. Bresolin",
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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

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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

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