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

Volumn 24, Issue 2, 1998, Pages 83-88

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

^a SCIENTIFIC INSTITUTE   (Italy)

Author keywords

Apo dystrophin; Duchenne muscular dystrophy; Mental retardation

Indexed keywords

DYSTROPHIN;

ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; GENE DELETION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MENTAL DEFICIENCY; PROTEIN EXPRESSION; PROTEIN SYNTHESIS;

EID: 0032420777     PISSN: 03905179     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. BAMBAUCH LL, CHAMBERLAIN JS, WARDY PA et al. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 1989; 39: 465.
2. BRESOLIN N, CASTELLI E, COMI GP, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscular Disorders 1994; 4: 359-69.
3. BARNEA E, ZUK D, SIMANTOV R, NUDEL U, YAFFE D. Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells. Neuron 1990; 5(6): 881-8.
4. BUSHBY KM, APPLETON R, ANDERSON LV, WELCH IL, KELLY P, GARDENER-MEWDIN D. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol 1995; 37(3): 260-9.
5. COMI GP, BRESOLIN N, BARDONI A et al. Absence of mental retardation in a large DMD gene deletion involving brain dystrophin promoter. Neurology 1993; 43: S1-S13.
6. LIDOV HGW, SELIG S, KUNKEL LM. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Gen 1994; 4: 329-35.
7. MORRIS GE, SIMMONS C, NGUYEN THI MAN et al. Apodystrophins (Dp140 and Dp71) and dystrophin splicing isoforms in developing brain. Bioc Biop Res Commun 1995; 215: 361-7.
8. KOENIG M, HOFFMAN EP, BERTELSON CJ et al. Complete cloning of the Duchenne Muscular Dystrophy cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-17.
9. BEGGS AH, KOENIG M, BOYCE FM et al. Detection of 98% DMD BMD gene deltions by polymerase chain reaction. Human Genet 1990; 86: 45-8.
10. CHAMBERLAIN JS, GIBBS RA, RANIER JE et al. Deletion screening of the Duchenne Muscular Dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 6: 11141-56.
11. LEIBOWITZ D, DUBOWITZ V et al. Intellect and behaviour in Duchenne muscolar distrophy. Dev Med Child Neurol 1981; 23(5): 577-90.