Literature DB >> 15452313

Familial myopathy with tubular aggregates associated with abnormal pupils.

Nortina Shahrizaila1, James Lowe, Adrian Wills.   

Abstract

The authors describe familial tubular aggregate myopathy associated with abnormal pupils. Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers.

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Year:  2004        PMID： 15452313     DOI： 10.1212/01.wnl.0000138575.14424.5f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  5 in total

1.  169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.

Authors:  Hans H Goebel; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2011-03-29       Impact factor: 4.296

Review 2.  Diseases caused by mutations in ORAI1 and STIM1.

Authors:  Rodrigo S Lacruz; Stefan Feske
Journal:  Ann N Y Acad Sci       Date:  2015-10-15       Impact factor: 5.691

Review 3.  Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

Authors:  Antonio Michelucci; Maricela García-Castañeda; Simona Boncompagni; Robert T Dirksen
Journal:  Cell Calcium       Date:  2018-10-30       Impact factor: 6.817

4.  Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Authors:  Vasyl Nesin; Graham Wiley; Maria Kousi; E-Ching Ong; Thomas Lehmann; David J Nicholl; Mohnish Suri; Nortina Shahrizaila; Nicholas Katsanis; Patrick M Gaffney; Klaas J Wierenga; Leonidas Tsiokas
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-03       Impact factor: 11.205

Review 5.  Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Authors:  Jong-Mok Lee; Satoru Noguchi
Journal:  Int J Mol Sci       Date:  2016-11-22       Impact factor: 5.923
  5 in total

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