Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations
BF Gavassini, N Carboni, JE Nielsen… - Muscle & …, 2011 - Wiley Online Library
BF Gavassini, N Carboni, JE Nielsen, ER Danielsen, C Thomsen, K Svenstrup, L Bello…
Muscle & nerve, 2011•Wiley Online LibraryIntroduction: In this study we describe the clinical and molecular characteristics of limb‐
girdle muscular dystrophy (LGMD) due to LAMA2 mutations. Methods: Five patients clinically
diagnosed with LGMD and showing brain white matter hyperintensities on MRI were
evaluated using laminin α2 genetic and protein testing. Results: The patients had slowly
progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy
was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive …
girdle muscular dystrophy (LGMD) due to LAMA2 mutations. Methods: Five patients clinically
diagnosed with LGMD and showing brain white matter hyperintensities on MRI were
evaluated using laminin α2 genetic and protein testing. Results: The patients had slowly
progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy
was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive …
Introduction
In this study we describe the clinical and molecular characteristics of limb‐girdle muscular dystrophy (LGMD) due to LAMA2 mutations.
Methods
Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin α2 genetic and protein testing.
Results
The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive functions and low IQ scores) were noted in 3 patients. Novel LAMA2 mutations were identified in all patients. The amount of laminin α2 protein in the muscle biopsies ranged from trace to about 50% compared with controls.
Conclusions
This study represents the largest series of LGMD laminin α2–deficient patients and expands the clinical phenotype associated with LAMA2 mutations. The findings suggest that brain MRI could be included in the diagnostic work‐up of patients with undiagnosed LGMD. Muscle Nerve, 2011
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