Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Zhi-xia Kang"'
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-3 (2018)
Abstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness th
Externí odkaz:
https://doaj.org/article/6c699af1d7d4443784cdba2ecd203953
Publikováno v:
Neuropathology. 40:104-108
Nemaline myopathy (NEM) is a congenital myopathy that typically presents with proximal muscle weakness and hypotonia. To date, 13 genes have been associated with NEM. The Kelch repeat and BTB domain-containing protein 13 (KBTBD13) gene (KBTBD13)-rela
Publikováno v:
Bosnian Journal of Basic Medical Sciences (2020)
Bosnian Journal of Basic Medical Sciences
Bosnian Journal of Basic Medical Sciences
Sarcotubular myopathy (STM) is a rare autosomal recessive myopathy caused by TRIM32 gene mutations. It is predominantly characterized by the weakness of the proximal limb and mild to moderate elevation of creatine kinase (CK) levels. In this study, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1613840d02936a85c7fbd119c9eb4a6
http://bjbms.org/ojs/index.php/bjbms/article/view/5288
http://bjbms.org/ojs/index.php/bjbms/article/view/5288
Publikováno v:
Bosnian Journal of Basic Medical Sciences; 2021, Vol. 21 Issue 4, p495-500, 6p
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-3 (2018)
Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends