Radiological findings in siblings with dysferlin mutation with diverse phenotype

• Published in: Journal 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
• Language: English
• 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

•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.