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The nuclear envelope: an intriguing focal point for neurogenetic disease.

ABSTRACT: Mutations in genes encoding nuclear envelope proteins cause a wide range of inherited diseases, many of which are neurological. We review the genetic causes and what little is known about pathogenesis of these nuclear envelopathies that primarily affect striated muscle, peripheral nerve and the central nervous system. We conclude by providing examples of experimental therapeutic approaches to these rare but important neuromuscular diseases.

SUBMITTER: Worman HJ

PROVIDER: S-EPMC4391386 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature

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The nuclear envelope: an intriguing focal point for neurogenetic disease.

Worman Howard J HJ Dauer William T WT

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20141001 4

Mutations in genes encoding nuclear envelope proteins cause a wide range of inherited diseases, many of which are neurological. We review the genetic causes and what little is known about pathogenesis of these nuclear envelopathies that primarily affect striated muscle, peripheral nerve and the central nervous system. We conclude by providing examples of experimental therapeutic approaches to these rare but important neuromuscular diseases. ...[more]

PMID: 25119890

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