Abstract
INTRODUCTION: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described.
METHODS: In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain-MRI, muscle pathology, muscle laminin-α2 expression, and genetic analyses were assessed.
RESULTS: Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively.
CONCLUSIONS: This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
| Original language | English |
|---|---|
| Journal | Muscle & Nerve |
| Volume | 52 |
| Issue number | 4 |
| Pages (from-to) | 547-53 |
| Number of pages | 7 |
| ISSN | 0148-639X |
| DOIs | |
| Publication status | Published - 1 Oct 2015 |
Keywords
- Adolescent
- Aged
- Biopsy
- Central Nervous System
- Child
- Child, Preschool
- Cohort Studies
- Cross-Sectional Studies
- Denmark
- Female
- Genetic Testing
- Humans
- Laminin
- Magnetic Resonance Imaging
- Male
- Muscle, Skeletal
- Muscular Dystrophies, Limb-Girdle
- Mutation
- Myasthenic Syndromes, Congenital