Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
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Authors
Geranmayeh, FatemehClement, 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
Affiliation
Dubowitz Neuromuscular Centre, Institute of Child Health & Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, United Kingdom.Issue Date
2010-04MeSH
AdolescentChild
Child, Preschool
DNA Mutational Analysis
Disease Progression
Exons
Frameshift Mutation
Genetic Testing
Genotype
Humans
Immunohistochemistry
Infant
Laminin
Mobility Limitation
Muscular Dystrophies
Mutation
Phenotype
RNA Splice Sites
Respiratory Paralysis
Young Adult
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Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 2010, 20 (4):241-50 Neuromuscul. Disord.Publisher
ElsevierJournal
Neuromuscular disorders : NMDDOI
10.1016/j.nmd.2010.02.001PubMed ID
20207543Abstract
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 some residual merosin. Compared to the residual merosin group, patients with absent merosin had an earlier presentation (<7days) (P=0.0073), were more likely to lack independent ambulation (P=0.0215), or require enteral feeding (P=0.0099) and ventilatory support (P=0.0354). We identified 33 novel LAMA2 mutations; these were distributed throughout the gene in patients with absent merosin, with minor clusters in exon 27, 14, 25 and 26 (55% of mutations). Patients with residual merosin often carried at least one splice site mutation and less frequently frameshift mutations. This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A.Item Type
ArticleLanguage
enISSN
1873-2364ae974a485f413a2113503eed53cd6c53
10.1016/j.nmd.2010.02.001
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