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dc.contributor.authorGeranmayeh, Fatemeh
dc.contributor.authorClement, Emma
dc.contributor.authorFeng, Lucy H
dc.contributor.authorSewry, Caroline
dc.contributor.authorPagan, Judith
dc.contributor.authorMein, Rachael
dc.contributor.authorAbbs, Stephen
dc.contributor.authorBrueton, Louise
dc.contributor.authorChilds, Anne-Marie
dc.contributor.authorJungbluth, Heinz
dc.contributor.authorDe Goede, Christian G
dc.contributor.authorLynch, Bryan
dc.contributor.authorLin, Jean-Pierre
dc.contributor.authorChow, Gabriel
dc.contributor.authorSousa, Carlos de
dc.contributor.authorO'Mahony, Olivia
dc.contributor.authorMajumdar, Anirban
dc.contributor.authorStraub, Volker
dc.contributor.authorBushby, Katherine
dc.contributor.authorMuntoni, Francesco
dc.date.accessioned2012-01-05T14:13:02Z
dc.date.available2012-01-05T14:13:02Z
dc.date.issued2010-04
dc.identifier.citationGenotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 2010, 20 (4):241-50 Neuromuscul. Disord.en
dc.identifier.issn1873-2364
dc.identifier.pmid20207543
dc.identifier.doi10.1016/j.nmd.2010.02.001
dc.identifier.urihttp://hdl.handle.net/10147/200275
dc.description.abstractMerosin 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.
dc.language.isoenen
dc.publisherElsevieren
dc.subject.meshAdolescent
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshDNA Mutational Analysis
dc.subject.meshDisease Progression
dc.subject.meshExons
dc.subject.meshFrameshift Mutation
dc.subject.meshGenetic Testing
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshImmunohistochemistry
dc.subject.meshInfant
dc.subject.meshLaminin
dc.subject.meshMobility Limitation
dc.subject.meshMuscular Dystrophies
dc.subject.meshMutation
dc.subject.meshPhenotype
dc.subject.meshRNA Splice Sites
dc.subject.meshRespiratory Paralysis
dc.subject.meshYoung Adult
dc.titleGenotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.en
dc.typeArticleen
dc.contributor.departmentDubowitz Neuromuscular Centre, Institute of Child Health & Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, United Kingdom.en
dc.identifier.journalNeuromuscular disorders : NMDen
dc.description.provinceMunster
html.description.abstractMerosin 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.


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