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

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
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
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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 some residual merosin. Compared to the residual merosin group, patients with absent merosin had an earlier presentation (
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2010.02.001