Concepedia

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Mark R. Davis, Eric Haan, Heinz Jungbluth, Caroline A. Sewry, Kathryn N. North, Francesco Muntoni, Thierry Küntzer, Phillipa J. Lamont, Agnes Bankier, Paul A. Tomlinson,

Neuromuscular Disorders · 2003 · 134 citations · 35 references

DOI

Concepts

References

35

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

, , +16

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

David H. MacLennan, Catherine Duff, Francesco Zorzato et al. · Nature · 1990 · 526 citations

, , +6

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Duangrurdee Wattanasirichaigoon, Hans H. Goebel, Matthew C. J. Wilce et al. · Nature Genetics · 1999 · 401 citations

, , +13

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2

Tommie V. McCarthy, John Healy, J.J.A. Heffron et al. · Nature · 1990 · 374 citations

, , +5

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

Nigel G. Laing, P. Anthony Akkari, S.M. Dorosz et al. · Nature Genetics · 1995 · 355 citations

, , +8