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 journalArticle

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Abstract

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
Volume20
Issue number7
DOIs
Publication statusPublished - Jul 2010

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Inheritance Patterns
Mosaicism
Mutation
Giant Axonal Neuropathy
Myofibrils
Genetic Counseling
Fathers
Embryonic Development
Axons
Siblings
Parents
Phenotype
Myofibrillar Myopathy

Keywords

  • 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)

Cite this

Odgerel, Z., Sarkozy, A., Lee, H. S., McKenna, C., Rankin, J., Straub, V., ... Goldfarb, L. G. (2010). Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscular Disorders, 20(7), 438-442. https://doi.org/10.1016/j.nmd.2010.05.004

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. / Odgerel, Zagaa; Sarkozy, Anna; Lee, Hee Suk; McKenna, Caoimhe; Rankin, Julia; Straub, Volker; Lochmüller, Hanns; Paola, Francalanci; D'Amico, Adele; Bertini, Enrico; Bushby, Kate; Goldfarb, Lev G.

In: Neuromuscular Disorders, Vol. 20, No. 7, 07.2010, p. 438-442.

Research output: Contribution to journalArticle

Odgerel, Z, Sarkozy, A, Lee, HS, McKenna, C, Rankin, J, Straub, V, Lochmüller, H, Paola, F, D'Amico, A, Bertini, E, Bushby, K & Goldfarb, LG 2010, 'Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation', Neuromuscular Disorders, vol. 20, no. 7, pp. 438-442. https://doi.org/10.1016/j.nmd.2010.05.004
Odgerel, Zagaa ; Sarkozy, Anna ; Lee, Hee Suk ; McKenna, Caoimhe ; Rankin, Julia ; Straub, Volker ; Lochmüller, Hanns ; Paola, Francalanci ; D'Amico, Adele ; Bertini, Enrico ; Bushby, Kate ; Goldfarb, Lev G. / Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. In: Neuromuscular Disorders. 2010 ; Vol. 20, No. 7. pp. 438-442.
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