CMT X: Vocal Cord Paresis and Probable X-Linked CMT with Novel GJB1 Mutation

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Int J Neurosci. 2010 Nov;120(11):731-4.

Vocal Cord Paresis and Probable X-Linked Charcot Marie Tooth Disease With Novel

GJB1 Mutation.

Li Q, Chen M, Liu K, Lin X, Chui D.

Department of Neurology, Affiliated Hospital of Guilin Medical University,

Guilin, China.

ABSTRACT: We describe a Chinese family with a probable X-linked dominant

inherited disorder characterized by early adult onset of distal muscle weakness

and amyotrophy of four limbs, followed by severe disability of feet. The life

expectancy of some patients is decreased due to severe respiratory failure

associated with bilateral vocal cord involvement.

The electrophysiological data showed predominantly the evidence of

demyelization. Genetic analysis revealed that all tested patients from the

family carried a novel c.186C & gt;G mutation in the GJB1 gene, resulting in

substitution of Serine for Arginine in the first extracellular loop domain of

Cx32 protein.

To our knowledge, this is the first time to describe this GJB1 mutation, which

is associated with the rather severe phenotype of the X-linked Charcot Marie

Tooth disease. The present report also provides further evidence for

heterogeneity among the X-linked Charcot Marie Tooth disease.