Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies-Reference-Cited by-同舟云学术

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

Published:2013-02 Issue:2 Volume:136 Page:508-521
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Davidson Ann E.,Siddiqui Fazeel M.,Lopez Michael A.,Lunt Peter,Carlson Heather A.,Moore Brian E.,Love Seth,Born Donald E.,Roper Helen,Majumdar Anirban,Jayadev Suman,Underhill Hunter R.,Smith Corrine O.,von der Hagen Maja,Hubner Angela,Jardine Philip,Merrison Andria,Curtis Elizabeth,Cullup Thomas,Jungbluth Heinz,Cox Mary O.,Winder Thomas L.,Abdel Salam Hossam,Li Jun Z.,Moore Steven A.,Dowling James J.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/136/2/508/13795266/aws344.pdf

Reference46 articles.

1. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2;Agrawal;Am J Hum Genet,2007

2. Prevalence of congenital myopathies in a representative pediatric united states population;Amburgey;Ann Neurol,2011

3. Multiplex western blotting system for the analysis of muscular dystrophy proteins;Anderson;Am J Pathol,1999

4. Arthrogryposis: a review and update;Bamshad;J Bone Joint Surg Am,2009

5. Cap disease due to mutation of the beta-tropomyosin gene (TPM2);Clarke;Neuromuscul Disord,2009

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