title: Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
abstract: OBJECTIVE
  Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed.
  
  
  CONCLUSIONS
  Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Takahashi
authors.forename: Masashi
authors.initials: M
authors.lastname: Aoki
authors.forename: Naoki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Maki
authors.initials: M
authors.lastname: Tateyama
authors.forename: Chikako
authors.initials: C
authors.lastname: Yaginuma
authors.forename: Hitomi
authors.initials: H
authors.lastname: Sato
authors.forename: Miho
authors.initials: M
authors.lastname: Hayasaka
authors.forename: Hitomi
authors.initials: H
authors.lastname: Sugawara
authors.forename: Mariko
authors.initials: M
authors.lastname: Ito
authors.forename: Emi
authors.initials: E
authors.lastname: Abe-Kondo
authors.forename: Naoko
authors.initials: N
authors.lastname: Shimakura
authors.forename: Tohru
authors.initials: T
authors.lastname: Ibi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kuru
authors.forename: Tadashi
authors.initials: T
authors.lastname: Wakayama
authors.forename: Gen
authors.initials: G
authors.lastname: Sobue
authors.forename: Naoki
authors.initials: N
authors.lastname: Fujii
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.forename: Itaru
authors.initials: I
authors.lastname: Funakawa
authors.forename: Eiichiro
authors.initials: E
authors.lastname: Mukai
authors.forename: Toru
authors.initials: T
authors.lastname: Kawanami
authors.forename: Mitsuya
authors.initials: M
authors.lastname: Morita
authors.forename: Mineo
authors.initials: M
authors.lastname: Yamazaki
authors.forename: Takashi
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Jun
authors.initials: J
authors.lastname: Shimizu
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Shigeki
authors.initials: S
authors.lastname: Kuzuhara
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Tanaka
authors.forename: Masaru
authors.initials: M
authors.lastname: Yoshioka
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Konno
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Onodera
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D044466:Asian People; D003402:Creatine Kinase / Q000097:blood; D000073939:Dysferlin; D005260:Female; D006334:Heart Function Tests; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D012129:Respiratory Function Tests; D012189:Retrospective Studies; D016019:Survival Analysis; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase