Article
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
American journal of human genetics - 5 Dec 2013
Gupta Vandana A, Ravenscroft Gianina, Shaheen Ranad, Todd Emily J, Swanson Lindsay C, Shiina Masaaki, Ogata Kazuhiro, Hsu Cynthia, Clarke Nigel F, Darras Basil T, Farrar Michelle A, Hashem Amal, Manton Nicholas D, Muntoni Francesco, North Kathryn N, Sandaradura Sarah A, Nishino Ichizo, Hayashi Yukiko K, Sewry Caroline A, Thompson Elizabeth M, Yau Kyle S, Brownstein Catherine A, Yu Timothy W, Allcock Richard J N, Davis Mark R, Wallgren-Pettersson Carina, Matsumoto Naomichi, Alkuraya Fowzan S, Laing Nigel G, Beggs Alan H
Abstract excerpt
Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is thought to be a disease of sarcomeric thin filaments as six of eight known genes whose mutation can cause NM encode components of that structure, however, recent discoveries of mutations in non-thin filament genes...
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