De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy
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Author / Creator
Edizadeh, Masoud , Vazehan, Raheleh , Javadi, Fatemeh , Shima Dehdahsi , Fadaee, Mahsa , Mehrshid Faraji Zonooz , Parsimehr, Elham , Ahangari, Fatemeh , Abolhassani, Ayda , Kalhor, Zahra , Fattahi, Zohreh , Beheshtian, Maryam , Kariminejad, Ariana , Akbari, Mohammad Reza , Najmabadi, Hossein and Nafissi, Shahriar
Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
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English
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Tehran: Academy of Medical Sciences of I.R. Iran
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Contents
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and suscep...
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Full title
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy
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TN_cdi_proquest_journals_2086247582
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2086247582
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ISSN
1029-2977
E-ISSN
1735-3947
