Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene

Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myop...

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Publié dans:Acta Myol
Auteurs principaux: Wunderlich, Gilbert, Brunn, Anna, Daimagüler, Hülya-Sevcan, Bozoglu, Tarik, Fink, Gereon R., Lehmann, Helmar C., Weis, Joachim, Cirak, Sebahattin
Format: Artigo
Langue:Inglês
Publié: Pacini Editore srl 2018
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Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060425/
https://ncbi.nlm.nih.gov/pubmed/30057997
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