Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Abstract Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We report 51 patients with MDC1A and examine the relationship between degree of merosin expression, genotype and clinical features. Thirty-three patients had absence of merosin and 13 showed...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2010-04, Vol.20 (4), p.241-250
Hauptverfasser:	Geranmayeh, Fatemeh, Clement, Emma, Feng, Lucy H, Sewry, Caroline, Pagan, Judith, Mein, Rachael, Abbs, Stephen, Brueton, Louise, Childs, Anne-Marie, Jungbluth, Heinz, De Goede, Christian G, Lynch, Bryan, Lin, Jean-Pierre, Chow, Gabriel, Sousa, Carlos de, O’Mahony, Olivia, Majumdar, Anirban, Straub, Volker, Bushby, Katherine, Muntoni, Francesco
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool Disease Progression DNA Mutational Analysis Exons - genetics Frameshift Mutation - genetics Genetic Testing Genotype Humans Immunohistochemistry Infant Laminin - genetics Laminin - metabolism Merosin deficient congenital muscular dystrophy 1A Mobility Limitation Muscular Dystrophies - genetics Muscular Dystrophies - pathology Muscular Dystrophies - physiopathology Mutation - genetics Neurology Phenotype Respiratory Paralysis RNA Splice Sites - genetics Young Adult
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