1981
DOI: 10.1016/0022-510x(81)90067-8
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Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

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Cited by 257 publications
(147 citation statements)
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“…DMRV, also known as Nonaka myopathy, is a distinct clinical disease entity in young adults, characterized by the preferential involvement of anterior tibial muscle from the early stage of disease (Nonaka et al 1981(Nonaka et al , 1998. Recently, GNE gene mutations have been identified in DMRV (Eisenberg et al 2001;Nishino et al 2002) and over 40 mutations have been found across the whole coding region of the GNE gene thus far.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…DMRV, also known as Nonaka myopathy, is a distinct clinical disease entity in young adults, characterized by the preferential involvement of anterior tibial muscle from the early stage of disease (Nonaka et al 1981(Nonaka et al , 1998. Recently, GNE gene mutations have been identified in DMRV (Eisenberg et al 2001;Nishino et al 2002) and over 40 mutations have been found across the whole coding region of the GNE gene thus far.…”
Section: Discussionmentioning
confidence: 99%
“…Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is a major entity of distal myopathy developing in early adulthood with weakness of the anterior compartment of the lower limbs, and is characterized by the presence of prominent rimmed vacuoles in muscle fibers with modest elevation of serum creatine kinase (CK) (Nonaka et al 1981(Nonaka et al , 1998.…”
Section: Introductionmentioning
confidence: 99%
“…Its muscle pathology is characterized by numerous rimmed vacuoles and filamentous inclusions in the sarcoplasm and nuclei of affected myofibers. 1,2 This disease is caused by mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. 3,4 Over the last 9 years, more than 70 GNE mutations have been described to be associated with DMRV/hereditary inclusion body myopathy in patients of different ethnic origin.…”
Section: Introductionmentioning
confidence: 99%
“…Distal myopathy with rimmed vacuoles (DMRV) 3 /hereditary inclusion body myopathy (hIBM) is a gradually progressive autosomal recessive disorder that predominantly affects distal muscles at the initial stages but also involves proximal muscles during the progression of the disease (1,2). DMRV/hIBM has been reported as quadriceps-sparing myopathy because the quadriceps muscles are relatively spared even during the late stage of the disease (3).…”
mentioning
confidence: 99%