Concepedia

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Montse Olivé, Zagaa Odgerel, Christine Stadelmann, Kerstin Irlbacher, Frank K.H. van Landeghem, Munkhuu Bayarsaikhan, Hee-Suk Lee, Bertrand Goudeau, Patrick F. Chinnery, Volker Straub,

European Journal of Human Genetics · 2008 · 83 citations · 16 references

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References

16

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Marinos C. Dalakas, Kyeyoon Park, Cristina Semino‐Mora et al. · New England Journal of Medicine · 2000 · 454 citations · Full text

, , +16

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

Matthias Vorgerd, Peter F. M. van der Ven, Vera Bruchertseifer et al. · The American Journal of Human Genetics · 2005 · 312 citations · Full text

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Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

Duygu Selcen · Brain · 2004 · 297 citations · Full text

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Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein

Terri G. Thompson, Yiu-mo Chan, Andrew A. Hack et al. · The Journal of Cell Biology · 2000 · 293 citations · Full text

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