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Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
Wunderlich, Gilbert; Brunn, Anna; Daimagüler, Hülya-Sevcan; Bozoglu, Tarik; Fink, Gereon R; Lehmann, Helmar C; Weis, Joachim; Cirak, Sebahattin.
Affiliation
  • Wunderlich G; Department of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
  • Brunn A; Institute for Neuropathology, University of Cologne, 50937 Cologne, Germany.
  • Daimagüler HS; Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
  • Bozoglu T; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Fink GR; Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
  • Lehmann HC; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Weis J; Department of Neurology, University Hospital Cologne, 50937 Cologne, Germany.
  • Cirak S; Cognitive Neuroscience, Institute of Neuroscience and Medicine, Research Centre Jülich, 52428 Jülich, Germany.
Acta Myol ; 37(2): 121-127, 2018 Jun.
Article in En | MEDLINE | ID: mdl-30057997
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 myopathy presentation of co-occurring cores and rods. The patient reported early childhood onset weakness. Muscle-MRI showed mainly proximal muscle involvement. We identified two compound heterozygous non-sense mutations in NEB (c.19653G > A, p.W6551* exon 127 and c.25441C > T, p.R8481* exon 182) using a comprehensive next generation sequencing (NGS)-based approach named Mendeliome Sequencing. The p.W6551* mutation has not been reported elsewhere. Early diagnosis by NGS shall be chased since even a scoliosis surgery at the age of 18 years had failed to initiate a neurological workup. Rather, cosmetic surgery for facial weakness had been performed recently, albeit with an unsatisfactory outcome.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Muscle, Skeletal / Muscle Proteins Type of study: Prognostic_studies / Screening_studies Limits: Female / Humans / Middle aged Language: En Journal: Acta Myol Journal subject: CARDIOLOGIA / FISIOLOGIA Year: 2018 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Nemaline / Muscle, Skeletal / Muscle Proteins Type of study: Prognostic_studies / Screening_studies Limits: Female / Humans / Middle aged Language: En Journal: Acta Myol Journal subject: CARDIOLOGIA / FISIOLOGIA Year: 2018 Document type: Article Affiliation country: Country of publication: