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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
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2015, Volume 2, Issue 3, pp. 229 - 240
Laminin α2 deficient congenital muscular dystrophy, caused by mutations in the LAMA2 gene, is characterized by early muscle weakness associated with abnormal... 
congenital muscular dystrophy | collagen VI-related myopathy | LAMA2 | Laminin alpha 2 | Emery-Dreifuss muscular dystrophy | dilated cardiomyopathy
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
Neuromuscular Disorders, ISSN 0960-8966, 09/2017, Volume 27, Issue 9, pp. 793 - 803
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 06/2018, Volume 9, pp. 47 - 56
LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the... 
gene therapy | muscular dystrophy | CMD | LAMA2 | mini-agrin | AAV | GENOTYPE-PHENOTYPE CORRELATION | MEDICINE, RESEARCH & EXPERIMENTAL | GUIDELINE DEVELOPMENT SUBCOMMITTEE | AMERICAN ASSOCIATION | LAMININ-ALPHA-1 CHAIN | MOUSE MODEL | MINI-AGRIN | DEFICIENT | IMPROVES | GENE-TRANSFER | ALPHA-2 CHAIN
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
The Application of Clinical Genetics, ISSN 1178-704X, 01/2019, Volume 12, pp. 113 - 130
Congenital muscular dystrophy (CMD) is a class of severe early-onset muscular dystrophies affecting skeletal/cardiac muscles as well as the central nervous... 
Pathology | Musculoskeletal system | Brain research | Congenital diseases | Scoliosis | MicroRNAs | Extracellular matrix | Nervous system | Mutation | Polyamines | Muscular dystrophy | phosphorodiamidate morpholino oligomer (PMO) | genome editing | LAMA2 | CRISPR/Cas9 | exon skipping | non-homologous end joining (NHEJ)
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