Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1 ) gene: A case outside of the old order amish-Reference-Cited by-同舟云学术

Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1 ) gene: A case outside of the old order amish

Published:2015-02-17 Issue:5 Volume:51 Page:767-772
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Marra Jonathan D.¹,Engelstad Kristin E.¹,Ankala Arunkanth²,Tanji Kurenai¹³,Dastgir Jahannaz¹²,De Vivo Darryl C.¹²,Coffee Bradford²,Chiriboga Claudia A.¹⁴

Affiliation:

1. Department of Neurology; Columbia University; 180 Fort Washington Avenue New York New York 10032 USA

2. Emory Genetics Laboratory; Emory University School of Medicine; Atlanta Georgia USA

3. Department of Pathology & Cell Biology; Columbia University; New York New York USA

4. Department of Pediatrics; Columbia University; New York New York USA

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24528/fullpdf

Reference32 articles.

1. Genetics of congenital nemaline myopathy: a study of 10 families;Wallgren-Pettersson;J Med Genet,1990

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

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

4. Light and electron microscopic studies of "myogranules" in a child with hypotonia and muscle weakness;Conen;Can Med Assoc J,1963

5. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy;North;J Med Genet,1997

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1. A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del);Genes & Genomics;2024-02-16

2. WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy;Annals of Clinical and Translational Neurology;2023-08-25

3. Adult‐onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene;Muscle & Nerve;2022-07-27

4. Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data;Journal of Child Neurology;2022-06

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