title: Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.
abstract: The aim of this study was to evaluate the pattern of thigh muscle MRI changes in a large cohort of patients with dysferlinopathy.
  
  
  
  MRI of the thigh was performed in 60 patients. We correlated the scale of muscle involvement on MRI with the modified Gardner-Medwin and Walton (GM-W) scale and disease duration. We also analyzed the relationship between muscle changes and genetic mutations.
  
  
  
  Fatty infiltration and edema were observed in 95.50% and 86.67% of patients, respectively. The hamstring muscles had the highest frequency and mean score of fatty infiltration, although a posterior-dominant pattern was found in only 56%. Edema most commonly and severely affected the quadriceps and adductor magnus muscles. Fatty infiltration score correlated positively with disease duration and GM-W scale.
  
  
  
  The pattern of fatty infiltration was heterogeneous in dysferlinopathy patients. Muscle edema was common. Fatty infiltration can be used to assess disease progression. Muscle Nerve 54: 1072-1079, 2016.
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, PR. China.
authors.forename: Suqin
authors.initials: S
authors.lastname: Jin
authors.affiliation: Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Du
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, PR. China.
authors.forename: Zhaoxia
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, PR. China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, PR. China.
authors.forename: He
authors.initials: H
authors.lastname: Lv
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, PR. China.
authors.forename: Lingchao
authors.initials: L
authors.lastname: Meng
authors.affiliation: Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
authors.forename: Jiangxi
authors.initials: J
authors.lastname: Xiao
authors.affiliation: Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, PR. China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
mesh_terms: D000293:Adolescent; D000328:Adult; D000073939:Dysferlin; D005260:Female; D005838:Genotype; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging*; D049288:Muscular Dystrophies, Limb-Girdle / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins
keywords: DYSF mutations; dysferlinopathy; edema; fatty infiltration; magnetic resonance imaging; muscle