Radiological findings in siblings with dysferlin mutation with diverse phenotype

•Dysferlinopathy is known to have three main phenotypes, LGMD R2, MM, and DMAT.•The siblings had the same mutations in our case.•They showed the different phenotypes but the same MRI pattern.

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Bibliographic Details
Published inJournal of the neurological sciences Vol. 409; p. 116579
Main Authors Shioya, Ayako, Takuma, Hiroshi, Takahashi, Toshiaki, Ishii, Akiko, Aoki, Masashi, Tamaoka, Akira
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 15.02.2020
Subjects
Adolescent
Adult
Dysferlin
Dysferlin - genetics
Genotype
Humans
Male
Muscle CT
Muscle MRI
Muscular Dystrophies, Limb-Girdle - diagnostic imaging
Muscular Dystrophies, Limb-Girdle - genetics
Mutation - genetics
Phenotype
Siblings
Genotype
Phenotype
Muscle CT
Muscle MRI
Dysferlin
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More Information
Summary:•Dysferlinopathy is known to have three main phenotypes, LGMD R2, MM, and DMAT.•The siblings had the same mutations in our case.•They showed the different phenotypes but the same MRI pattern.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2019.116579