نتایج جستجو برای: genotype phenotype correlation

تعداد نتایج: 615945  

Journal: :Arquivos De Neuro-psiquiatria 2023

Background: Patients with LAMA2-congenital muscular dystrophy (CMD) usually present a severe phenotype characterized by inability to achieve walking capacity, multiple joint deformities, and respiratory insufficiency. However, there is gravity spectrum, some patients can walk unassisted. Characteristically, the have white matter changes in T2-WI FLAIR brain magnetic resonance. More rarely, cort...

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