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DeCS
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Descriptor Inglés:
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Giant Axonal Neuropathy
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Descriptor Español:
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Neuropatía Axonal Gigante
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Descriptor Portugués:
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Neuropatia Axonal Gigante
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Sinónimos Inglés:
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Axonal Neuropathy, Giant
Axonal Neuropathy, Giant (GAN)
Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Neuropathy, Giant Axonal (GAN)
Neuropathy, Giant Axonal, Autosomal Recessive
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Categoría:
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C10.500.300.490
C10.574.500.495.490
C10.668.829.325
C10.668.829.800.300.490
C16.131.666.300.490
C16.320.400.375.490
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Definición Inglés:
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Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS). |
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Nota Histórica Inglés:
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2010
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Calificadores Permitidos Inglés:
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Número del Registro:
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53516
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Identificador Único:
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D056768
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Ocurrencia en la BVS:
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Similar:
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DeCS
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