High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency
| Autor: | Maria de los Angeles Beytía, Constantin Anastasopoulos, Verena Haug, Gabriele Dekomien, Sabine Hoffjan, Janbernd Kirschner |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Adolescent medicine.disease_cause Polymorphism Single Nucleotide Muscular Dystrophies Young Adult Laminin medicine Humans High creatine kinase Child Muscle Skeletal Molecular Biology Gene Creatine Kinase Genetic Association Studies Mutation Muscle biopsy medicine.diagnostic_test biology Muscle weakness Genetic Variation Infant Cell Biology medicine.disease Laminin alpha 2 White Matter biology.protein Congenital muscular dystrophy Female medicine.symptom |
| Zdroj: | Molecular and cellular probes. 28(4) |
| ISSN: | 1096-1194 |
| Popis: | Primary deficiency of laminin alpha-2 due to mutations in the LAMA2 gene accounts for 30% of all patients with congenital muscular dystrophy. Here, we present seven patients with partial or total laminin alpha-2 deficiency (MDC1A) with a wide clinical spectrum, ranging from ambulant patients to patients who were never able to stand or sit. We identified two pathogenic mutations in the LAMA2 gene in all patients except for one patient in whom only one mutation was found. Six of the mutations were previously undescribed. In some of the milder cases, laminin alpha-2 expression in the muscle biopsy was only slightly reduced. These findings emphasize that analysis of the LAMA2 gene might be necessary in patients with muscle weakness, cerebral white matter changes and high creatine kinase levels, even in the presence of laminin alpha-2 in the muscle biopsy. |
| Databáze: | OpenAIRE |
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