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Journal Article
Journal of Human Genetics, ISSN 1434-5161, 02/2017, Volume 62, Issue 2, pp. 243 - 252
The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families... 
POINT MUTATIONS | LAMA2 MUTATIONS | DIAGNOSIS | GENE | DISEASE | GENETICS & HEREDITY | PHENOTYPE | GIRDLE MUSCULAR-DYSTROPHY | SMCHD1 MUTATION | BETHLEM MYOPATHY | IDENTIFICATION
Journal Article
neurogenetics, ISSN 1364-6745, 11/2013, Volume 14, Issue 3, pp. 205 - 213
Journal Article
Internal Medicine, ISSN 0918-2918, 2018, Volume 57, Issue 6, pp. 877 - 882
A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused... 
merosin | leukoencephalopathy | lissencephaly | partial merosin deficiency | LAMA2 | Merosin | Partial merosin deficiency | Lissencephaly | Leukoencephalopathy | LOCALIZATION | CONGENITAL MUSCULAR-DYSTROPHY | LAMININ ALPHA-2 CHAIN | PHENOTYPE | MUSCLE | MEDICINE, GENERAL & INTERNAL | SITES | BINDING | Index Medicus | Case Report
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2019, Volume 29, Issue 5, pp. 376 - 380
2 mutations cause the most frequent congenital muscular dystrophy subtype MDC1A and a variety of milder phenotypes, characterized by total or partial... 
LAMA2 | WES | Congenital muscular dystrophy type 1A | Laminin-α2 | POPULATION | NERVE | CONGENITAL MUSCULAR-DYSTROPHY | MEROSIN | NEUROSCIENCES | CLINICAL NEUROLOGY | Laminin-alpha 2 | NEUROPATHY | COHORT | SPECTRUM
Journal Article
by Ding, M and Wang, X and Zeng, YP and Lu, ZN and Cai, S and Gao, MS and Zhu, WH and Luo, SS and Zhao, CB and Xiao, ZM
CLINICAL NEUROPATHOLOGY, ISSN 0722-5091, 05/2019, Volume 38, Issue 3, pp. 100 - 108
Congenital muscular dystrophy with laminin-alpha 2 deficiency, also known as MDC1A, displays an extensive pheno-typic and genetic heterogeneity. The... 
MDC1A | CHAIN | congenital muscular dystrophy | LAMA2 | MEROSIN | GIRDLE MUSCULAR-DYSTROPHY | PATHOLOGY | CLINICAL NEUROLOGY | la minin-alpha 2-deficiency
Journal Article
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1314 - 1337
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the... 
laminin-alpha 2 | locus-specific database | CONGENITAL MUSCULAR-DYSTROPHY | CORTICAL DYSPLASIA | PROTEIN | LAMA2 | ABNORMALITIES | LAMININ ALPHA-2-CHAIN | congenital | mutation update | muscular dystrophy | GENETICS & HEREDITY | PERIPHERAL NEUROPATHY | PARTIAL MEROSIN DEFICIENCY | EPILEPSY | ALPHA-2 CHAIN | BASEMENT-MEMBRANE
Journal Article
Internal Medicine, ISSN 0918-2918, 2018
A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused... 
lissencephaly | LAMA2 | merosin | leukoencephalopathy | partial merosin deficiency
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 04/2007, Volume 104, Issue 17, pp. 7092 - 7097
Mutations in the human laminin alpha 2 (LAMA2) gene result in the most common form of congenital muscular dystrophy (MDC1A). There are currently three models... 
fiber | NOTOCHORD | LAMININ | MULTIDISCIPLINARY SCIENCES | DYSTROGLYCAN | degeneration | SKELETAL-MUSCLE | time-lapse | muscle | DEFICIENT | DIFFERENTIATION | GENE LAMA2 | EXPRESSION | ALPHA-2 CHAIN
Journal Article
PLOS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually... 
MUTANT | POPULATION | MEROSIN | MULTIDISCIPLINARY SCIENCES | LAMININ ALPHA-2 | PHENOTYPE | MICE | MODEL | LAMA2 GENE
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 2015, Volume 22, Issue 12, pp. 1983 - 1985
Highlights • This paper describes a novel LAMA2 mutation in MDC1A. • In silico analysis suggests the mutation results in a misspliced transcript. • Loss of... 
Neurology | Immunohistochemistry | Laminin-2 | Mutation | Merosin deficient congenital muscular dystrophy | LAMA2 | SERVER | SEQUENCE | DISEASE | NEUROSCIENCES | CLINICAL NEUROLOGY | PREDICTION | Laminin - genetics | Male | Muscular Dystrophies - genetics | Humans | Infant, Newborn | Genetic aspects | Laminin | Genetic disorders | Analysis | Index Medicus
Journal Article
Neurogenetics, ISSN 1364-6745, 2/2004, Volume 5, Issue 1, pp. 27 - 34
Journal Article
by Xiong, H and Tan, D and Wang, S and Song, S and Yang, H and Gao, K and Liu, A and Jiao, H and Mao, B and Ding, J and Chang, X and Wang, J and Wu, Y and Yuan, Y and Jiang, Y and Zhang, F and Wu, H and Wu, X
CLINICAL GENETICS, ISSN 0009-9163, 03/2015, Volume 87, Issue 3, pp. 233 - 243
Laminin-2 deficient congenital muscular dystrophy (CMD) is an autosomal recessive disorder characterized by severe muscular dystrophy, which is typically... 
POPULATION | LAMA2 | CGH | MEROSIN | PHENOTYPE | clinical manifestations | MLPA | GENETICS & HEREDITY | LAMA2 GENE ANALYSIS | MUTATIONS | EXPRESSION | DNA sequencing | PRENATAL-DIAGNOSIS
Journal Article
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