A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Maria L. Rocha, Carsten Dittmayer, Akinori Uruha, Dirk Korinth, Rabih Chaoui, Dietmar Schlembach, Rainer Rossi, Katarina Pelin, Eun Kyung Suk, Simone Schmid, Hans H. Goebel, Markus Schuelke, Werner Stenzel, Benjamin Englert

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNeuromuscular Disorders
Issue number3
Pages (from-to)239-245
Number of pages7
Publication statusPublished - Mar 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Nemaline myopathy
  • NEB
  • Arthrogryposis
  • Large-scale electron microscopy
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry

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