Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report-Reference-Cited by-同舟云学术

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

Published:2017-09-19 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Bánfai Zsolt,Hadzsiev Kinga,Pál Endre,Komlósi Katalin,Melegh Márton,Balikó László,Melegh Béla^ORCID

Funder

National Scientific Research Programs, Hungary

National Scientific Research Programs (Hungary)

Resesarch University Resource, Institutional Excellence Grant 2016, Hungary

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0463-y.pdf

Reference35 articles.

1. Scott W, Stevens J, Binder-Macleod SA. Human skeletal muscle fiber type classifications. Phys Ther. 2001;81(11):1810–6.

2. Pette D, Staron RS. Myosin isoforms, muscle fiber types, and transitions. Microsc Res Tech. 2000;50(6):500–9.

3. Oldfors A. Hereditary myosin myopathies. Neuromuscular disorders: NMD. 2007;17(5):355–67.

4. Atkinson SJ, Stewart M. Molecular basis of myosin assembly: coiled-coil interactions and the role of charge periodicities. J Cell Sci Suppl. 1991;14:7–10.

5. Atkinson SJ, Stewart M. Molecular interactions in myosin assembly. Role of the 28-residue charge repeat in the rod. J Mol Biol. 1992;226(1):7–13.

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