Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.
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DOI: 10.5414/np301137
Abstract: Congenital muscular dystrophy with laminin-α2 deficiency, also known as MDC1A, displays an extensive phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and genetic findings must be considered to obtain the precise diagnosis and provide… read more here.
Keywords: mild cognitive; cognitive impairment; severe leukoencephalopathy; missense mutations ... See more keywords