α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy-Reference-Cited by-同舟云学术

α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

Published:2021-02-03 Issue:3 Volume:9 Page:1672-1676
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Almobarak Sulaiman¹²^ORCID,Hu Jonathan³,Langdon Kristopher D.⁴,Ang Lee‐Cyn³⁵,Campbell Craig¹³⁶

Affiliation:

1. Department of Paediatrics Children's HospitalLondon Health Sciences Centre London ON Canada

2. Departments of Neuroscience King Faisal Specialist Hospital & Research Center Riyadh Saudi Arabia

3. Schulich School of Medicine & Dentistry Western University London ON Canada

4. Department of Pathology Foothills Medical Centre University of Calgary Calgary AB Canada

5. Department of Pathology and Laboratory University HospitalLondon Health Sciences Centre London ON Canada

6. Department of Pediatrics Clinical Neurological Sciences and Epidemiology University of Western OntarioChildren’s HospitalLondon Health Sciences Centre London ON Canada

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3866

Reference15 articles.

1. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

2. Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

3. Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

4. Neonatal nemaline myopathy presenting with multiple joint contractures

5. Nemaline myopathy in the neonate: two case reports

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prognostic value and potential regulatory relationship of miR‐200c‐5p in colorectal cancer;Journal of Biochemical and Molecular Toxicology;2024-07-17

2. A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype;International Journal of Molecular Sciences;2023-11-09

3. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy;Skeletal Muscle;2023-11-07

4. Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach;Human Mutation;2022-09-14