Novel mutations in the GDAP1

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• 作者：Isabella Moroni ; Michela Morbin ; Micaela Milani ; Claudia Ciano ; Marianna Bugiani ; Emanuela Pagliano ; Tiziana Cavallaro ; Davide Pareyson ; Franco Taroni
• 关键词：CMT2 ; GDAP1 gene ; Axonal neuropathy ; Autosomal recessive ; Vocal cord palsy
• 刊名：Neuromuscular Disorders
• 出版年：2009
• 出版时间：July 2009
• 年：2009
• 卷：19
• 期：7
• 页码：476-480
• 全文大小：1286 K

文摘

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.