Prenatal diagnosis of congenital myopathies and muscular dystrophies

Author:

Massalska D.1,Zimowski J.G.2,Bijok J.1,Kucińska-Chahwan A.1,Łusakowska A.3,Jakiel G.1,Roszkowski T.1

Affiliation:

1. Department of Obstetrics and Gynecology; Centre of Postgraduate Medical Education; Warsaw Poland

2. Department of Genetics; Institute of Psychiatry and Neurology; Warsaw Poland

3. Department of Neurology; Medical University of Warsaw; Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 19 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. KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report;Genes;2024-02-05

2. Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-01

3. The congenital muscular dystrophies;Annals of the Child Neurology Society;2023-12-20

4. Expression of Myomaker and Myomerger in myofibers causes muscle pathology;Skeletal Muscle;2023-05-01

5. Spinal muscular atrophy type 2: efficacy of risdiplam in a 7-year-old child;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2022-08-10

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