Literature DB >> 1314344

Familial inclusion body myositis: evidence for autosomal dominant inheritance.

H E Neville1, L L Baumbach, S P Ringel, L S Russo, E Sujansky, C A Garcia.   

Abstract

We report a kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.

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Year:  1992        PMID: 1314344     DOI: 10.1212/wnl.42.4.897

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  9 in total

1.  Glucocorticoid-sensitive hereditary inclusion body myositis.

Authors:  M Naumann; H Reichmann; H H Goebel; C Moll; K V Toyka
Journal:  J Neurol       Date:  1996-02       Impact factor: 4.849

2.  Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

Authors:  T Martinsson; N Darin; M Kyllerman; A Oldfors; B Hallberg; J Wahlström
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

3.  Muscle fiber degeneration in distal myopathy with rimmed vacuole formation.

Authors:  N Murakami; Y Ihara; I Nonaka
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

Review 4.  Familial autoimmunity and the idiopathic inflammatory myopathies.

Authors:  E A Shamim; F W Miller
Journal:  Curr Rheumatol Rep       Date:  2000-06       Impact factor: 4.592

5.  Twisted tubulofilaments of inclusion body myositis muscle resemble paired helical filaments of Alzheimer brain and contain hyperphosphorylated tau.

Authors:  V Askanas; W K Engel; M Bilak; R B Alvarez; D J Selkoe
Journal:  Am J Pathol       Date:  1994-01       Impact factor: 4.307

6.  Strong immunoreactivity of alpha 1-antichymotrypsin co-localizes with beta-amyloid protein and ubiquitin in vacuolated muscle fibers of inclusion-body myositis.

Authors:  M Bilak; V Askanas; W K Engel
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

7.  Inclusion body myositis: clinical and histopathological features of 36 patients.

Authors:  S Beyenburg; S Zierz; F Jerusalem
Journal:  Clin Investig       Date:  1993-05

Review 8.  Inclusion body myositis: a view from the Caenorhabditis elegans muscle.

Authors:  Daniela L Rebolledo; Alicia N Minniti; Paula M Grez; Ricardo Fadic; Rebecca Kohn; Nibaldo C Inestrosa
Journal:  Mol Neurobiol       Date:  2008-09-05       Impact factor: 5.590

9.  How citation distortions create unfounded authority: analysis of a citation network.

Authors:  Steven A Greenberg
Journal:  BMJ       Date:  2009-07-20
  9 in total

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