Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical neuropathology"
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
Lesson of the month: Severe leukoencephalopathy by SARS-CoV-2.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical medicine"
DOI: 10.7861/clinmed.2020-0940
Abstract: Neurological manifestations associated with SARS-CoV-2 infection as well as its pathogenesis are insufficiently explained. We present two cases of severe COVID-19 who required hospitalisation in the intensive care unit with persistently depressed mental status and… read more here.
Keywords: lesson month; medicine; month severe; leukoencephalopathy sars ... See more keywords