Article
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Archives of Iranian medicine - 1 Sept 2017
Edizadeh Masoud, Vazehan Raheleh, Javadi Fatemeh, Dehdahsi Shima, Fadaee Mahsa, Faraji Zonooz Mehrshid, Parsimehr Elham, Ahangari Fatemeh, Abolhassani Ayda, Kalhor Zahra, Fattahi Zohreh, Beheshtian Maryam, Kariminejad Ariana, Akbari Mohammad Reza, Najmabadi Hossein, Nafissi Shahriar
Abstract excerpt
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 susceptibility to malignant hyperthermia. We report the clinical and...
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