Title: | Novel dysferlin mutations and characteristic muscle atrophy in late-onset miyoshi myopathy |
Journal : | Muscle & Nerve, 29 |
Authors: | Suzuki N ; Aoki M ; Takahashi T ; Takano D ; Asano M ; Shiga Y ; Onodera Y ; Tateyama M ; Itoyama Y |
Material Type: | Article |
Publication Date: | 05/2004 |
Size: | p. 727-723 |
Languages: | English |
Keywords : | adulthood ; age of disease onset ; alleles ; case studies ; clinical presentation ; comparative studies ; complementary DNA ; creatine kinase ; dysferlin ; exon ; female ; genetic mutations ; genetic polymorphism ; healthy people ; Japan ; leucine ; Miyoshi distal myopathy ; muscle fatigue ; PCR ; RNA ; sequencing ; skeletal muscle ; tomography |
Abstract: |
Accès au résumé Pubmed/to pubmed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15116377&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |