Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Zagaa Odgerel, Anna Sarkozy, Hee Suk Lee, Caoimhe McKenna, Julia Rankin, Volker Straub, Hanns Lochmüller, Francalanci Paola, Adele D'Amico, Enrico Bertini, Kate Bushby, Lev G. Goldfarb

Research output: Contribution to journalArticlepeer-review


Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by disintegration of myofibrils. The inheritance pattern is commonly autosomal dominant, but there has been a striking absence of secondary cases noted in a BAG3-associated subtype. We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons. In one family, transmission to a pair of siblings has occurred from their asymptomatic father who showed somatic mosaicism. In two other families, neither of the parents was affected or showed detectable level of somatic mosaicism. These observations suggest that the BAG3 variant of myofibrillar myopathy may result from a spontaneous mutation at an early point of embryonic development and that transmission from a mosaic parent may occur more than once. The study underlines the importance of parental evaluation as it may have implications for genetic counseling.

Original languageEnglish
Pages (from-to)438-442
Number of pages5
JournalNeuromuscular Disorders
Issue number7
Publication statusPublished - Jul 2010


  • Bcl-2-associated athanogene 3 (BAG3)
  • Cardiomyopathy
  • Giant axons
  • Limb-girdle muscular dystrophy
  • Myofibrillar myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology
  • Medicine(all)


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