Centronuclear myopathy: advances in genetic understanding and potential for future treatments

ABSTRACT Introduction: Centronuclear myopathy (CNM) is a rare congenital muscle disease in which the most important skeletal muscle histological characteristic is the prominent internalized nuclei. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1, RYR1, TTN, SPEG, and CCDC78. Areas covered: Published literature on clinical, histologic, genetic, and etiopathogenic aspects of CNM, as well as therapeutic perspectives and available clinical trials were identified through PubMed searches to build this review. Expert opinion: In common, the genes related to CNM encode proteins involved in different cellular processes such as triad system and microtubule maintenance, membrane remodeling and trafficking, excitation–contraction coupling (EC), and activation of some of the protein degradation systems. Promising therapies for the X-linked recessive form (XLMTM) include the use of viral vectors to edit and/or replace MTM1 and reduce dynamin-2 (DNM2) expression; and the replacement of MTM1 through viral vectors is already in clinical trial in children with XLMTM, bringing great excitement and hope for CNM patients.

• Publication year

  2018

• Venue

  Expert Opinion on Orphan Drugs

• Publication date

  2018-05-31

• Fields of study

  Medicine

• Identifiers
  DOI 10.1080/21678707.2018.1480366
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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