genetic mutation

July 29, 2018August 29, 2018

PNKP Mutation Causes CMT2 in Large Costa Rican Family, Genetic Study Reveals

News

A reanalysis of the genetic profile of a large Costa Rican family revealed that a PNKP gene mutation was to blame for Charcot-Marie-Tooth disease type 2 (CMT2) and not ... Read more

May 21, 2018May 21, 2018

Micro RNA Variant Found that May Be Linked to CMT1A Outcomes

News

A specific mutation in a small RNA molecule called miR-149 was found to be linked to both age of onset and severity in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), ... Read more

March 23, 2018March 23, 2018

Newly Identified Gene Mutation Linked to Rare CMT Type in Indian Case Report

News

Researchers have linked a newly identified mutation affecting the HSPB1 gene to a rare subtype of Charcot-Marie-Tooth disease (CMT) in a recent case report from India. The case report, “Charcot Marie ... Read more

February 23, 2018

New Mutation on MPZ Gene Linked to Charcot–Marie–Tooth Disease in Three Generations of a Family

News

A mutation affecting the MPZ gene was found to be linked to Charcot–Marie–Tooth (CMT) disease in four members of a single family. University of Vermont researchers published their case report on ... Read more

February 7, 2018

Researchers Link Another GDAP1 Gene Mutation to Charcot-Marie-Tooth Disease

News

French scientists have linked another mutation of the GDAP1 gene to Charcot-Marie-Tooth disease. But in this case, the mutation was in an area of the gene that does not ... Read more

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