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The clinical and genetic spectrum of spinocerebellar ataxia 14

CHEN, D.-H ; CIMINO, P. J ; WOLFF, J ; MORGAN, C ; LAU, D ; FERNANDEZ, M ; SASAKI, H ; RASKIND, W. H ; BIRD, T. D ; RANUM, L. P. W ; ZOGHBI, H. Y ; YABE, I ; SCHUT, L ; MARGOLIS, R. L ; LIPE, H. P ; FELEKE, A ; MATSUSHITA, M

Neurology, 2005-04, Vol.64 (7), p.1258-1260 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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Título:
The clinical and genetic spectrum of spinocerebellar ataxia 14
Autor: CHEN, D.-H ; CIMINO, P. J ; WOLFF, J ; MORGAN, C ; LAU, D ; FERNANDEZ, M ; SASAKI, H ; RASKIND, W. H ; BIRD, T. D ; RANUM, L. P. W ; ZOGHBI, H. Y ; YABE, I ; SCHUT, L ; MARGOLIS, R. L ; LIPE, H. P ; FELEKE, A ; MATSUSHITA, M
Assuntos: Adolescent ; Adult ; Aged ; Biological and medical sciences ; Child ; Child, Preschool ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Diseases of striated muscles. Neuromuscular diseases ; DNA Mutational Analysis ; Female ; Gene Deletion ; Genetic Predisposition to Disease - genetics ; Genetic Testing ; Genotype ; Humans ; Male ; Medical sciences ; Middle Aged ; Mutation - genetics ; Mutation, Missense - genetics ; Neurology ; Phenotype ; Protein Kinase C - chemistry ; Protein Kinase C - genetics ; Protein Structure, Tertiary - genetics ; RNA Splice Sites - genetics ; Spinocerebellar Ataxias - enzymology ; Spinocerebellar Ataxias - genetics ; Spinocerebellar Ataxias - physiopathology
É parte de: Neurology, 2005-04, Vol.64 (7), p.1258-1260
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.
Editor: Hagerstown, MD: Lippincott Williams & Wilkins
Idioma: Inglês

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The clinical and genetic spectrum of spinocerebellar ataxia 14

CHEN, D.-H ; CIMINO, P. J ; WOLFF, J ; MORGAN, C ; LAU, D ; FERNANDEZ, M ; SASAKI, H ; RASKIND, W. H ; BIRD, T. D ; RANUM, L. P. W ; ZOGHBI, H. Y ; YABE, I ; SCHUT, L ; MARGOLIS, R. L ; LIPE, H. P ; FELEKE, A ; MATSUSHITA, M

Hagerstown, MD: Lippincott Williams & Wilkins

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