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DeCS
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Descritor Inglês:
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Giant Axonal Neuropathy
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Descritor Espanhol:
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Neuropatía Axonal Gigante
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Descritor Português:
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Neuropatia Axonal Gigante
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Sinônimos Inglês:
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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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Categoria:
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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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Definição Inglês:
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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 Inglês:
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2010
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Qualificadores Permitidos Inglês:
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Número do Registro:
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53516
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Identificador Único:
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D056768
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Ocorrência na BVS:
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Similar:
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DeCS
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