A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
J Hum Genet
; 64(2): 171-176, 2019 Feb.
Article
em En
| MEDLINE
| ID: mdl-30467354
ABSTRACT
The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Paraplegia
/
Polineuropatias
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Proteínas
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Córtex Sensório-Motor
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Child, preschool
/
Female
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Humans
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Male
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Japão