Diffuse Anaplastic Wilms Tumor in a Child With LAMA2-related Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002503
Abstract: Laminin alpha-2-related muscular dystrophy (LAMA2-MD), caused by mutations in the LAMA2 gene, is inherited in an autosomal recessive manner. There is no known association of LAMA2-MD with cancer predisposition. We present a 4-year-old female with… read more here.
Keywords: oncology; lama2; muscular dystrophy; related muscular ... See more keywords
LAMA2-related muscular dystrophy mimicking multiple sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249061
Abstract: Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epilepsy and/or cardiorespiratory issues, and… read more here.
Keywords: related muscular; multiple sclerosis; muscular dystrophy; lama2 ... See more keywords
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-221638
Abstract: BACKGROUND LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. However, the disease does not only affect the muscles, but… read more here.
Keywords: intellectual disability; brain mri; epilepsy intellectual; lama2 ... See more keywords