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jtitle_s:("Acta mmol")
1.  Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene 
Acta Myologica  2009;28(2):72-75.
Charcot-Marie-Tooth type 1X (CMT1X) disease is inherited as an X-linked dominant trait. Female CMT1X patients are usually mildly affected or even asymptomatic carriers of mutations in the GJB1 gene coding for a gap junction protein called connexin-32 (Cx32).
In this report, a five-generation CMT1X family is described from which the new mutation in the GJB1 gene Cys179Gly was identified.
The Cys179Gly mutation is located in the highly conservative domain of the Cx32 protein. Previous functional studies performed in the oocyte system have shown that point mutations in the highly conserved Cx32 cysteine residues result in a complete loss of function of the gap junction. However, despite severe biochemical defects, the Cys179Gly mutation segregates with a mild CMT1X phenotype.
This study further documents a discrepancy between biochemical effects of GJB1 mutations and the CMT1X phenotype.
PMCID: PMC2858952  PMID: 20128140
CMT1X disease; novel GJB1 gene mutation; Cx32 protein; loss of function mutations
3.  Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene 
Acta Myologica  2007;26(2):108-111.
Charcot-Marie-Tooth type 4C4 disease (CMT4C4) is an early onset, autosomal recessive neuropathy with hoarseness caused by mutations in the GDAP1 gene which maps to the 8q13 region. To date, only 24 mutations in the GDAP1 gene have been reported. Neuropathological findings of sural nerve biopsies have been published for a limited number of CMT4C4 patients. Herein, a novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family is described and longitudinal clinical and electrophysiological studies as well as morphological findings are presented.
PMCID: PMC2949579  PMID: 18421898
CMT; GDAP1 gene; genotype–phenotype correlations

Results 1-3 (3)