Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations. © The Author(s) 2011.
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373c > T causes a very early-onset neuropathy: Case report and literature review / Fusco, C.; Ucchino, V.; Barbon, G.; Bonini, E.; Mostacciuolo, M. L.; Frattini, D.; Pisani, F.; Giustina, E. D.. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 1708-8283. - 26:1(2011), pp. 49-57. [10.1177/0883073810373142]
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373c > T causes a very early-onset neuropathy: Case report and literature review
Pisani F.;
2011
Abstract
Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations. © The Author(s) 2011.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
