Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

@article{AvilaSmirnow2016CardiacAA,
  title={Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.},
  author={Daniela Avila-Smirnow and Lucie Gueneau and Sabrina Batonnet-Pichon and Florence Delort and H-M B{\'e}cane and Kristl G. Claeys and Maud Beuvin and Bertrand Goudeau and J M Jais and Isabelle Nelson and Pascale Richard and Rabah Ben Yaou and Norma Beatriz Romero and Karim Wahbi and St{\'e}phane Mathis and Thomas Voit and Dana Furst and Peter F. M. van der Ven and Roger Gil and Patrick Vicart and Michel Fardeau and Gis{\`e}le Bonne and Anthony B{\'e}hin},
  journal={Revue neurologique},
  year={2016},
  volume={172 10},
  pages={594-606}
}
Myofibrillar myopathies (MFM) are mostly adult-onset diseases characterized by progressive morphological alterations of the muscle fibers beginning in the Z-disk and the presence of protein aggregates in the sarcoplasm. They are mostly caused by mutations in different genes that encode Z-disk proteins, including DES, CRYAB, LDB3, MYOT, FLNC and BAG3. A large family of French origin, presenting an autosomal dominant pattern, characterized by cardiac arrhythmia associated to late-onset muscle… CONTINUE READING
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A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy

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