Research paperFamilial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy
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Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
2010, Neuromuscular DisordersCitation Excerpt :The immunocytochemical analysis of merosin in the muscle biopsy of this patient showed that the 4H8 antibody was almost negative, while many fibers were still labeled with the 80 kDa antibody suggesting a residual rather than absent merosin status. Patients with MDC1A typically lack merosin expression and have a homogeneous phenotype with early weakness, delayed milestones and normal cognition with typical white matter abnormalities on brain MRI [2,4,5,36]. This is in contrast to cases that show residual merosin expression giving rise to a more heterogeneous group with either severe or considerably milder phenotypes [37].
The congenital muscular dystrophies in 2004: A century of exciting progress
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2001, Journal of the Neurological SciencesCognitive abilities in children with congenital muscular dystrophy: Correlation with brain MRI and merosin status
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1999, Neuromuscular Disorders
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