Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080947 | Neuromuscular Disorders | 2009 | 5 Pages |
Abstract
We report a detailed study of eight patients from four Italian families presenting with autosomal recessive axonal Charcot-Marie-Tooth disease (AR-CMT2), characterized by early-onset and progressive severe weakness of all limbs. Vocal cord paresis was present in two cases. Sural nerve biopsy performed in three patients showed a severe neuropathy characterized by a predominant axonal involvement. Five novel mutations (p.Gln99stop, p.Gln122Lys, p.Arg125stop, p.Val219Asp, p.Asn297Lys) and one previously reported mutation (p.Leu239Phe) were identified in GDAP1 gene. GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal CMT.
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
Isabella Moroni, Michela Morbin, Micaela Milani, Claudia Ciano, Marianna Bugiani, Emanuela Pagliano, Tiziana Cavallaro, Davide Pareyson, Franco Taroni,