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A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.

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Title: A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.
Authors: Garibaldi, M.1,2 matteo.garibaldi@uniroma1.it, Fattori, F.3, Riva, B.4, Labasse, C.5, Brochier, G.5, Ottaviani, P.6, Sacconi, S.2, Vizzaccaro, E.1, Laschena, F.6, Romero, N.B.5, Genazzani, A.4, Bertini, E.3, Antonini, G.1
Source: Clinical Genetics. May2017, Vol. 91 Issue 5, p780-786. 8p. 1 Color Photograph, 1 Black and White Photograph, 1 Graph.
Database: Academic Search Ultimate
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  Data: A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.
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  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. May2017, Vol. 91 Issue 5, p780-786. 8p. 1 Color Photograph, 1 Black and White Photograph, 1 Graph.
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              Text: May2017
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