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J Neuromuscul Dis. 2015 Jul 22;2(s2):S73-S76.

GNE Myopathy: Two Clusters with History and Several Founder Mutations.

Abstract

GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and are described in this review. The review also discusses some historical aspects that might be relevant to the mutational distribution.

KEYWORDS:

Distal myopathy; GNE mutations; Roma/Gypsy; distal myopathy with rimmed vacuoles; ethnic clusters; hereditary inclusion body myopathy

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