Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy

Mario Sabatelli, M Muglia, M Zappia, V Timmerman, P Valentino, Al Gabriele, Fl Conforti, P De Jonghe, M Ragno, R Mazzei, M Sabatelli, G Nicoletti, Am Patitucci, Rl Olivieri, F Bono, A Gambardella, A. Quattrone

Risultato della ricerca: Contributo in rivistaArticolo in rivista

25 Citazioni (Scopus)

Abstract

The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.
Lingua originaleEnglish
pagine (da-a)100-103
Numero di pagine4
RivistaNeurology
Stato di pubblicazionePubblicato - 2001

Keywords

  • cmt

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