BACKGROUND: @entity17870 mutations cause a @entity395 characterized by hereditary inclusion body @entity121 , @entity4261 ( @entity4261 ), and @entity4943 ( @entity4943 ) with variable penetrance. @entity17870 mutations have also been linked to @entity746 and @entity5108 . METHODS: Review of clinical, serological, electrophysiological, and myopathological findings of 6 @entity17870 -opathy @entity1 from 4 unrelated families. RESULTS: @entity1 manifested muscle weakness between ages 40 and 53 years and developed predominant asymmetric limb girdle weakness. A @entity1 had distal weakness at onset and co-existing @entity1897 . One @entity1 had @entity4261 , 1 mild @entity73 , and 1 @entity4943 . All @entity1 had @entity121 and neurogenic electromyographic findings with predominant neurogenic changes in 2. Rimmed vacuoles were infrequent, while neurogenic changes were prominent in muscle biopsies. CONCLUSIONS: @entity17870 -opathy is a @entity74 in which @entity121 and @entity1897 can coexist. The electrophysiological and pathological neurogenic changes raise the possibility of coexisting motor neuron involvement. This article is protected by copyright. All rights reserved.

Clinical Spectrum of @entity17870 ( XXXX )-opathy.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'patient'] @entity5108 :: ('MESH:D002607', 'Disease') :: ['Charcot-Marie-Tooth disease type 2'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive deficits'] @entity4261 :: ('MESH:D010001', 'Disease') :: ['Paget disease of bone', 'PDB'] @entity1897 :: ('MESH:D010523', 'Disease') :: ['peripheral neuropathy'] @entity17870 :: ('7415', 'Gene') :: ['VCP'] @entity74 :: ('MESH:D030342', 'Disease') :: ['multifaceted disorder'] @entity746 :: ('MESH:D000690', 'Disease') :: ['amyotrophic lateral sclerosis'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disorder'] @entity4943 :: ('MESH:D057180', 'Disease') :: ['FTD', 'frontotemporal dementia'] @entity121 :: ('MESH:D009135', 'Disease') :: ['myopathic', 'myopathy']
@entity17870 :: (7415,Gene) :: ['VCP']
