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Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations
Author(s) -
Gavassini Bruno F.,
Carboni Nicola,
Nielsen Jørgen E.,
Danielsen Else R.,
Thomsen Carsten,
Svenstrup Kirsten,
Bello Luca,
Maioli Maria Antonietta,
Marrosu Giovanni,
Ticca Anna Filomena,
Mura Marco,
Marrosu Maria Giovanna,
Soraru Gianni,
Angelini Corrado,
Vissing John,
Pegoraro Elena
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22132
Subject(s) - limb girdle muscular dystrophy , muscular dystrophy , hyperintensity , medicine , laminin , congenital muscular dystrophy , pathology , phenotype , magnetic resonance imaging , genetics , biology , radiology , gene , extracellular matrix
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