CMT Type 2

July 13, 2018July 13, 2018

Multiple Ways Gene Now Linked to CMT Type 2, DHTKD1, Causes Disease Traced in Study

News

Mutations in DHTKD1, a recently discovered cause of a Charcot-Marie-Tooth (CMT) type 2 subtype, can lead to the disease through a mechanism involving problems with cellular metabolism, insulin release, and overproduction ... Read more

January 22, 2018January 22, 2018

New Genetic Mutation Causing CMT Found in Chinese Family, Study Reports

News

Researchers at China’s Shandong University have discovered a novel gene mutation in a Chinese family with Charcot-Marie-Tooth (CMT) disease type 2. Their study, “A novel mutation of LRSAM1 in ... Read more

December 20, 2017December 20, 2017

New ‘Checkpoint’ Model Has Potential for Screening Therapeutics for CMT

News

The proteins NME3 and CSNK1G3 can help increase production of proteins lacking in genetic diseases with an underlying nonsense mutation – such as Charcot-Marie-Tooth type 2 disease – leading ... Read more

October 4, 2017

Researchers Uncover Molecular Consequences of CMT Type 2 Mutations

News

Researchers have identified molecular consequences of mutations in the MORC2 gene — one of the genes that may cause Charcot-Marie Tooth (CMT) disease. The mutations, researchers at the University ... Read more

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