Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)
- 1 February 2002
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (2) , 91-94
- https://doi.org/10.1038/sj.ejhg.5200743
Abstract
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.Keywords
This publication has 10 references indexed in Scilit:
- 85th ENMC International Workshop on Congenital Muscular Dystrophy 6th International CMD Workshop 1st Workshop of the Myo-Cluster Project ‘GENRE’27–28th October 2000, Naarden, The NetherlandsNeuromuscular Disorders, 2002
- Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-DystroglycanAmerican Journal of Human Genetics, 2001
- Congenital muscular dystrophy with primary partial laminin α2 chain deficiency: Molecular studyNeurology, 2001
- Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophyNeuromuscular Disorders, 2001
- Animal models for muscular dystrophy: valuable tools for the development of therapiesHuman Molecular Genetics, 2000
- Merosin and congenital muscular dystrophyMicroscopy Research and Technique, 2000
- The Saga of Congenital Muscular DystrophyNeuropediatrics, 1999
- Laminin α2 muscular dystrophyNeurology, 1998
- PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.Journal of Medical Genetics, 1998
- Genetic epidemiology of congenital muscular dystrophy in a sample from north-east ItalyHuman Genetics, 1996