TNNT1 nemaline myopathy: natural history and therapeutic frontier-Reference-Cited by-同舟云学术

TNNT1 nemaline myopathy: natural history and therapeutic frontier

Published:2018-06-20 Issue:18 Volume:27 Page:3272-3282
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Fox Michael D¹²³^ORCID,Carson Vincent J¹,Feng Han-Zhong⁴,Lawlor Michael W⁵,Gray John T⁶,Brigatti Karlla W¹,Jin J -P⁴,Strauss Kevin A¹

Affiliation:

1. Clinic for Special Children, Strasburg, PA, USA

2. Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA

3. Diagnostic Referral Division, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

4. Department of Physiology, Wayne State University School of Medicine, Detroit, MI, USA

5. Department of Pathology and Laboratory Medicine and Neuroscience Research Center, The Medical College of Wisconsin, Milwaukee, WI, USA

6. Audentes Therapeutics, San Francisco, CA, USA

Funder

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/18/3272/25643365/ddy233.pdf

Reference45 articles.

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2. ‘An artefact gone awry’: identification of the first case of nemaline myopathy by Dr R.D.K. Reye;Schnell;Neuromuscul. Disord,2000

3. The prognostic value of the muscle biopsy in the floppy infant;Greenfield;Brain,1958

4. Nemaline myopathy. A new congenital myopathy;Shy;Brain,1963

5. Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy;Lawlor;Skelet Muscle,2011

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