Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A-Reference-Cited by-同舟云学术

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

Published:2021-09-16 Issue:11 Volume:35 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Khorrami Afshin¹,Goleij Pouya²,Karamad Vahidreza³,Taheri Elham⁴,Shadman Behrouz³,Emami Parisa⁵,Jahangirzadeh Gholamreza⁶,Hajazimian Saba⁷,Isazadeh Alireza⁷^ORCID,Baradaran Behzad⁷^ORCID,Heidari Mansour⁸

Affiliation:

1. Young Researchers and Elit Club Varamin‐Pishva Branch Islamic Azad University Varamin‐Pishva Iran

2. Department of Genetics Faculty of Biology Sana Institute of Higher Education Sari Iran

3. Department of Medical Biology Faculty of Medicine Ege University Izmir Turkey

4. Department of Pharmaceutical Biotechnology Tabriz University of Medical Sciences Tabriz Iran

5. Department of Genetics Ahar Branch Islamic Azad University Ahar Iran

6. Department of Genetics Tabriz Branch Islamic Azad University Tabriz Iran

7. Immunology Research Center Tabriz University of Medical Sciences Tabriz Iran

8. Department of Medical Genetics Tehran University of Medical Sciences (TUMS) Tehran Iran

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry, medical,Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.23930

Reference26 articles.

1. Merosin‐deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings;Ip JJ;J Radiol Case Rep,2012

2. Prevalence of congenital muscular dystrophy in Italy: A population study

3. Diagnostic approach to the congenital muscular dystrophies

4. Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy

5. A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

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1. Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis;Genes;2023-02-14

2. Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior;Neuromuscular Disorders;2022-09