Radiological findings in siblings with dysferlin mutation with diverse phenotype.

Shioya, Ayako; Takuma, Hiroshi; Takahashi, Toshiaki; Ishii, Akiko; Aoki, Masashi; Tamaoka, Akira

Shioya, Ayako; Takuma, Hiroshi; Takahashi, Toshiaki; Ishii, Akiko; Aoki, Masashi; Tamaoka, Akira.

Afiliação

Shioya A; Department of Neurology, Mito Kyodo General Hospital, Tsukuba University Hospital Mito Area Medical Education Center, Ibaraki, Japan. Electronic address: ayshioya@md.tsukuba.ac.jp.
Takuma H; Takuma Neurology Clinic, Tokyo, Japan.
Takahashi T; Department of Neurology and Division of Clinical Research, National Hospital Organization Sendai-Nishitaga Hospital, Miyagi, Japan.
Ishii A; Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
Aoki M; Department of Neurology, Tohoku University School of Medicine, Miyagi, Japan.
Tamaoka A; Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.

J Neurol Sci ; 409: 116579, 2020 02 15.

Article em En | MEDLINE | ID: mdl-31770675

Assuntos

Disferlina/genética; Distrofia Muscular do Cíngulo dos Membros/diagnóstico por imagem; Distrofia Muscular do Cíngulo dos Membros/genética; Mutação/genética; Irmãos; Adolescente; Adulto; Humanos; Masculino

Palavras-chave

Dysferlin; Genotype; Muscle CT; Muscle MRI; Phenotype

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Irmãos / Distrofia Muscular do Cíngulo dos Membros / Disferlina / Mutação Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Humans / Male Idioma: En Revista: J Neurol Sci Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google