Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy

Journal of Neurology

Volumn 250, Issue 5, 2003, Pages 581-587

  Ito, T ^a   Takeshima, Y ^a   Yagi, M ^a   Kamei, S ^a   Wada, H ^b   Nakamura, H ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Sakura Ryoikuen Hospital   (Japan)

Author keywords

Carrier; Duchenne muscular dystrophy; Dystrophin; NMD; Nonsense mutation; Nonsense mediated mRNA decay

Indexed keywords

CELL DNA; COMPLEMENTARY DNA; DYSTROPHIN; MESSENGER RNA;

ADULT; ARTICLE; CASE REPORT; DNA DETERMINATION; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; HETEROZYGOTE; HUMAN; LYMPHOCYTE; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; RNA STABILITY; SEQUENCE ANALYSIS; SKELETAL MUSCLE; TISSUE DISTRIBUTION; X CHROMOSOME INACTIVATION;

ADULT; CODON, NONSENSE; DYSTROPHIN; FEMALE; HETEROZYGOTE DETECTION; HUMANS; LYMPHOCYTES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; RNA, MESSENGER;

EID: 0037903303     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-1040-1     Document Type: Article

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