Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 4, 2013, Pages 433-439

  Takahashi, Toshiaki ^a   Aoki, Masashi ^b   Suzuki, Naoki ^b   Tateyama, Maki ^b   Yaginuma, Chikako ^a   Sato, Hitomi ^a   Hayasaka, Miho ^a   Sugawara, Hitomi ^a   Ito, Mariko ^a   Abe Kondo, Emi ^a,c   Shimakura, Naoko ^b   Ibi, Tohru ^d   Kuru, Satoshi ^e   Wakayama, Tadashi ^e,f   Sobue, Gen ^g   Fujii, Naoki ^h   Saito, Toshio ⁱ   Matsumura, Tsuyoshi ⁱ   Funakawa, Itaru ^a   Mukai, Eiichiro ^j   Kawanami, Toru ^k   Morita, Mitsuya ^l   Yamazaki, Mineo ^m   Hasegawa, Takashi ^n,o   Shimizu, Jun ^p   Tsuji, Shoji ^p   Kuzuhara, Shigeki ^q,r   Tanaka, Hiroyasu ^a   Yoshioka, Masaru ^a   Konno, Hidehiko ^a   Onodera, Hiroshi ^a   Itoyam, Yasuto ^b,s   more..

^a NATIONAL HOSPITAL ORGANIZATION   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Sagami Hospital of Rehabilitation   (Japan)

^d AICHI MEDICAL UNIVERSITY   (Japan)

^e SUZUKA NATIONAL HOSPITAL   (Japan)

^f Dr Wakayama's Office   (Japan)

^g NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h Omuta National Hospital   (Japan)

ⁱ TONEYAMA NATIONAL HOSPITAL   (Japan)

^j NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^k YAMAGATA UNIVERSITY   (Japan)

^l JICHI MEDICAL UNIVERSITY   (Japan)

^m NIPPON MEDICAL SCHOOL   (Japan)

ⁿ JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^o Asao General Hospital   (Japan)

^p UNIVERSITY OF TOKYO   (Japan)

^q MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^r SUZUKA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^s NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSFERLIN; GENOMIC DNA;

ADOLESCENCE; ADULT; ADULTHOOD; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DISEASE DURATION; DNA SEQUENCE; DYSFERLINOPATHY; DYSPHAGIA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HAND FUNCTION; HEART FUNCTION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; JAPAN; JAPANESE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2B; LIMB WEAKNESS; MALE; MOLECULAR PATHOLOGY; MUSCLE EXAMINATION; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NECK MUSCLE; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RETROSPECTIVE STUDY; SCOLIOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 84875228632     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2011-301339     Document Type: Article

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