نتایج جستجو برای: muscular function

تعداد نتایج: 1248677  

Journal: :Human molecular genetics 2014
Stefania Di Costanzo Anuradha Balasubramanian Heather L Pond Anete Rozkalne Chiara Pantaleoni Simona Saredi Vandana A Gupta Christine M Sunu Timothy W Yu Peter B Kang Mustafa A Salih Marina Mora Emanuela Gussoni Christopher A Walsh M Chiara Manzini

Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion of dystroglycan, α-dystroglycan, ...

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