Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
rs104894078 in
GDAP1 gene and
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
PMID 28244113 2017 Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
PMID 26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
PMID 20685671 2010 The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.