Literature DB >> 8542045

Congenital muscular dystrophies.

K Arahata1, H Ishii, Y K Hayashi.   

Abstract

Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it has been postulated that Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome (but not Finnish muscle-eye-brain disease) are genetically identical diseases.

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Year:  1995        PMID: 8542045     DOI: 10.1097/00019052-199510000-00011

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  7 in total

1.  Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS.

Authors:  R T Libby; C R Lavallee; G W Balkema; W J Brunken; D D Hunter
Journal:  J Neurosci       Date:  1999-11-01       Impact factor: 6.167

2.  Laminin expression in adult and developing retinae: evidence of two novel CNS laminins.

Authors:  R T Libby; M F Champliaud; T Claudepierre; Y Xu; E P Gibbons; M Koch; R E Burgeson; D D Hunter; W J Brunken
Journal:  J Neurosci       Date:  2000-09-01       Impact factor: 6.167

Review 3.  The role of laminins in basement membrane function.

Authors:  M Aumailley; N Smyth
Journal:  J Anat       Date:  1998-07       Impact factor: 2.610

Review 4.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

5.  Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle.

Authors:  Rashmi Rawat; Tatiana V Cohen; Beryl Ampong; Dwight Francia; Andrea Henriques-Pons; Eric P Hoffman; Kanneboyina Nagaraju
Journal:  Am J Pathol       Date:  2010-04-22       Impact factor: 4.307

6.  Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models.

Authors:  W Kuang; H Xu; P H Vachon; L Liu; F Loechel; U M Wewer; E Engvall
Journal:  J Clin Invest       Date:  1998-08-15       Impact factor: 14.808

7.  Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI.

Authors:  Claudia C Leite; Leandro T Lucato; Maria G M Martin; Lucio G Ferreira; Maria B D Resende; Mary S Carvalho; Suely K N Marie; J Randy Jinkins; Umbertina C Reed
Journal:  Pediatr Radiol       Date:  2005-03-05
  7 in total

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