Literature DB >> 18808993

Congenital myopathies.

Nigel G Laing1, Caroline A Sewry, Phillipa Lamont.   

Abstract

Entities:  

Year:  2007        PMID： 18808993     DOI： 10.1016/S0072-9752(07)86001-5

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN： 0072-9752


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  2 in total

1.  Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Authors:  Thomas Z Armel; Leslie A Leinwand
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-31       Impact factor: 11.205

2.  Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Authors:  Zsolt Bánfai; Kinga Hadzsiev; Endre Pál; Katalin Komlósi; Márton Melegh; László Balikó; Béla Melegh
Journal:  BMC Med Genet       Date:  2017-09-19       Impact factor: 2.103
  2 in total

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