N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

ABSTRACT: Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused research on the mechanisms of early development, cell differentiation, and cell-cell interactions in the peripheral nervous system. Autosomal recessive peripheral neuropathies are relatively rare but are clinically more severe than autosomal dominant forms of CMT, and understanding their molecular basis may provide a new perspective on these mechanisms. Here we report the identification of the gene responsible for hereditary motor and sensory neuropathy-Lom (HMSNL). HMSNL shows features of Schwann-

SUBMITTER: Kalaydjieva L 

PROVIDER: S-EPMC1287101 | biostudies-literature | 2000 Jul

REPOSITORIES: biostudies-literature