Dominant  mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Sambuughin, N.; Yau, K.S.; Duff, R.M.; Bayarsaikhan, M.; Lu, S.J.; Gonzalez-Mera, L.; Sivadorai, P.; Nowak, K.J.; Ravenscroft, G.; Mastaglia, F.L.; North, K.N.; Ilkovski, B.; Kremer, H.; Lammens, M.M.; Engelen, B.G.M. van; Fabian, V.; Lamont, P.; Davis, M.R.; Laing, N.G.; Goldfarb, L.G.

Publication year

2011

Source

American Journal of Human Genetics, 87, (2011), pp. 842

ISSN

0002-9297

DOI

https://doi.org/10.1016/j.ajhg.2010.10.020

Publication type

Article / Letter to editor

If a DOI or any other persistent identifier is unavailable, please use the following repository identifier to link to this item: https://hdl.handle.net/2066/97835

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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

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