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Molecular mechanisms of inherited demyelinating neuropathies.


ABSTRACT: The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the heterogeneity of dysmyelinating and demyelinating phenotypes. Here, we review selected recent developments from work on the molecular mechanisms of these disorders and their implications for treatment strategies.

SUBMITTER: Scherer SS 

PROVIDER: S-EPMC2570024 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature

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Molecular mechanisms of inherited demyelinating neuropathies.

Scherer Steven S SS   Wrabetz Lawrence L  

Glia 20081101 14


The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the heterogeneity of dysmyelinating and demyelinating phenotypes. Here, we review selected recent developmen  ...[more]

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