Literature DB >> 10392746

Duchenne and Becker muscular dystrophies: an Estonian experience.

U A Talkop1, T Klaassen, A Piirsoo, V Sander, A Napa, E Essenson, J Tammur, T Talvik.   

Abstract

The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.

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Year:  1999        PMID: 10392746     DOI: 10.1016/s0387-7604(99)00016-9

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  2 in total

Review 1.  A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground.

Authors:  Toshifumi Yokota; Shin'ichi Takeda; Qi-Long Lu; Terence A Partridge; Akinori Nakamura; Eric P Hoffman
Journal:  Arch Neurol       Date:  2009-01

Review 2.  Optimizing exon skipping therapies for DMD.

Authors:  T Yokota; W Duddy; T Partridge
Journal:  Acta Myol       Date:  2007-12
  2 in total

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