Clinical utility gene card for: Nemaline myopathy - update 2015

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25.

Authors

Kristen J Nowak¹, Mark R Davis², Carina Wallgren-Pettersson³, Phillipa J Lamont², Nigel G Laing¹

Affiliations

¹ Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
² Department of Diagnostic Genomics, Neurogenetics Laboratory, QEII Medical Centre, Nedlands, Western Australia, Australia.
³ Department of Medical Genetics, The Folkhälsan Institute of Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Genetic Predisposition to Disease*
Genetic Testing*
Humans
Muscle Proteins / genetics
Muscle, Skeletal / pathology
Mutation
Myopathies, Nemaline / diagnosis
Myopathies, Nemaline / genetics*
Myopathies, Nemaline / pathology
Tropomyosin / genetics

Substances

Muscle Proteins
TPM3 protein, human
Tropomyosin
nebulin