What causes nemaline myopathy 6 (NEM6)?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

NEM6 is due to an autosomal mutation in Kelch repeat and BTB/POZ domains-containing protein 13 (KBTBD13). [22]  KBTBD13 protein localizes to the cytoplasm of skeletal and cardiac muscle. More than 60 proteins of the BTB/Ketch family have been identified. Functions include cytoskeletal modulation, regulation of gene transcription, ubiquitination, cell migration, and myofibril assembly. [22]  Pathologic changes in muscle biopsies include numerous rods near Z-disks, type 1 fiber predominance and hypertrophy, and unstructured cores devoid of oxidative enzyme activity. [22]

Presentation is in childhood with the inability to run or jump with slow progression of the disease. Often, movements are slow with significant proximal neck and shoulder weakness. [22]


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