Concepedia

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková, Svetlana Gorokhova, Hee-Suk Lee, Olavo M. Vasconcelos, James W. Nagle, C. Semino–Mora, Kumaraswamy Sivakumar, Marinos C. Dalakas

Nature Genetics · 1998 · 506 citations · 8 references

DOI

Concepts

References

8

Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity.

Satoshi Nakano, Andrew G. Engel, Andrew J. Waclawik et al. · Journal of Neuropathology & Experimental Neurology · 1996 · 170 citations · Full text

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Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.

Anthony Letai, Pierre A. Coulombe, Elaine Fuchs · The Journal of Cell Biology · 1992 · 152 citations · Full text

, , +15

Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship

Steven H. Horowitz, H. Schmalbruch · Muscle & Nerve · 1994 · 92 citations

, , +14

Autosomal dominant “spheroid body myopathy”

Hans H. Goebel, Jans Muller, H. W. Gillen et al. · Muscle & Nerve · 1978 · 72 citations

, , +11

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy

Patrick Vicart, Jean‐Marie Dupret, Zhenlin Li et al. · Human Genetics · 1996 · 59 citations

, , +10