Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery
Reference20 articles.
1. Congenital muscular dystrophy with merosin deficiency;Tomé;C R Acad Sci III Sci Vie,1994
2. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy;Helbling-Leclerc;Nat Genet,1995
3. Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter;Echenne;Neuromuscul Disord,1997
4. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy;Mostacciuolo;Hum Genet,1996
5. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001–2008;Clement;Neuromuscul Disord,2012
Cited by 3 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. Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A;Journal of Clinical Laboratory Analysis;2021-09-16
2. Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy;Fetal and Pediatric Pathology;2018-10-25
3. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity;European Radiology;2018-05-25
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