PT - JOURNAL ARTICLE AU - Toshiaki Takahashi AU - Masashi Aoki AU - Naoki Suzuki AU - Maki Tateyama AU - Chikako Yaginuma AU - Hitomi Sato AU - Miho Hayasaka AU - Hitomi Sugawara AU - Mariko Ito AU - Emi Abe-Kondo AU - Naoko Shimakura AU - Tohru Ibi AU - Satoshi Kuru AU - Tadashi Wakayama AU - Gen Sobue AU - Naoki Fujii AU - Toshio Saito AU - Tsuyoshi Matsumura AU - Itaru Funakawa AU - Eiichiro Mukai AU - Toru Kawanami AU - Mitsuya Morita AU - Mineo Yamazaki AU - Takashi Hasegawa AU - Jun Shimizu AU - Shoji Tsuji AU - Shigeki Kuzuhara AU - Hiroyasu Tanaka AU - Masaru Yoshioka AU - Hidehiko Konno AU - Hiroshi Onodera AU - Yasuto Itoyama TI - Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B AID - 10.1136/jnnp-2011-301339 DP - 2013 Apr 01 TA - Journal of Neurology, Neurosurgery & Psychiatry PG - 433--440 VI - 84 IP - 4 4099 - http://jnnp.bmj.com/content/84/4/433.short 4100 - http://jnnp.bmj.com/content/84/4/433.full SO - J Neurol Neurosurg Psychiatry2013 Apr 01; 84 AB - Objective and methods 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. Results and 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.