... neurologic conditions. Charcot-Marie-Tooth disease type 2 (CMT2). Other subtypes of CMT2 have a wide range of onset age and ... Marie-Tooth Hereditary Neuropathy Overview ). Generally, individuals with CMT2 present with distal muscular atrophy, loss of reflexes, ...

... that 13 (<1%) of 422 individuals with a CMT2 (axonal CMT) phenotype were heterozygous for a TRPV4 ... increased to 9% in those with an unusual CMT2 presentation (e.g., vocal fold and diaphragmatic paresis). ...

... Disorders with similar phenotypes are two forms of CMT2 : CMT2B, a motor and sensory neuropathy with severe ...

... as CMT2K) have been described. See CMT Overview : CMT2 [ Claramunt et al 2005 , Chung et al 2008 , ...