The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373CT causes a very early-onset neuropathy: case report and literature review
| Autor: | Elena Bonini, Maria Luisa Mostacciuolo, Elvio Della Giustina, Valentina Ucchino, Daniele Frattini, Giovanni Barbon, Francesco Pisani, Carlo Fusco |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Nerve Tissue Proteins Disease medicine.disease_cause Polymorphism Single Nucleotide GDAP1 gene Charcot-Marie-Tooth Disease medicine Humans Child Gene Inherited neuropathy Genetics Neurologic Examination Mutation Ganglioside Charcot-Marie-Tooth 4A Genetic heterogeneity business.industry Homozygote Infant early-onset neuropathy ganglioside-induced differentiation-associated protein 1(GDAP1) gene Very early onset Genetic mutations Child Preschool Pediatrics Perinatology and Child Health Immunology Neurology (clinical) business |
| Zdroj: | Journal of child neurology. 26(1) |
| ISSN: | 1708-8283 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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