{"id":430,"date":"2014-07-31T12:55:39","date_gmt":"2014-07-31T12:55:39","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jnnp\/?p=430"},"modified":"2014-07-31T12:55:39","modified_gmt":"2014-07-31T12:55:39","slug":"genetic-mutations-predisposing-but-not-causative","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jnnp\/2014\/07\/31\/genetic-mutations-predisposing-but-not-causative\/","title":{"rendered":"Genetic mutations: Predisposing but not causative?"},"content":{"rendered":"

Hereditary IBM is an autosomal recessive myopathy characterized by distal muscle weakness, and the absence of the classical IBM phenotype.\u00a0 mutations in the UDP-N<\/em>-acetylglucosamine 2-epimerase\/N<\/em>-acetylmannosamine kinase (GNE) gene has been linked with development of this myopathy.\u00a0 However, there has been a paucity of genotype-phenotype correlation studies, critical for understanding disease mechanisms. \u00a0 In this issue of JNNP, a large Japanese group reports the mutation profile for the GNE gene and find phenotypic variability, underscoring the importance of a clinical context.<\/p>\n

 <\/p>\n

Read more at http:\/\/jnnp.bmj.com\/content\/85\/8\/914.abstract<\/p>\n

 <\/p>\n

Mutation profile of the GNE<\/em> gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)<\/h1>\n
\n
    \n
  1. Anna Cho<\/a><\/span>1<\/a>,<\/li>\n
  2. Yukiko K Hayashi<\/a><\/span>1<\/a>,<\/span>2<\/a>,<\/span>3<\/a>,<\/li>\n
  3. Kazunari Monma<\/a><\/span>1<\/a>,<\/li>\n
  4. Yasushi Oya<\/a><\/span>4<\/a>,<\/li>\n
  5. Satoru Noguchi<\/a><\/span>1<\/a>,<\/li>\n
  6. Ikuya Nonaka<\/a><\/span>1<\/a>,<\/li>\n
  7. Ichizo Nishino<\/a><\/span>1<\/a>,<\/span>2<\/a><\/li>\n<\/ol>\n<\/div>\n

    <\/p>\n","protected":false},"excerpt":{"rendered":"

    Hereditary IBM is an autosomal recessive myopathy characterized by distal muscle weakness, and the absence of the classical IBM phenotype.\u00a0 mutations in the UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase (GNE) gene has been linked with development of this myopathy.\u00a0 However, there has been a paucity of genotype-phenotype correlation studies, critical for understanding disease mechanisms. \u00a0 In this issue […]<\/p>\n

    Read More…<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-430","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/posts\/430","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/comments?post=430"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/posts\/430\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/media?parent=430"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/categories?post=430"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jnnp\/wp-json\/wp\/v2\/tags?post=430"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}