Literature DB >> 21150886

Clinical utility gene card for: Laing distal myopathy.

Phillipa Lamont1, William Wallefeld, Mark Davis, Bjarne Udd, Nigel Laing.   

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Year:  2010        PMID： 21150886      PMCID： PMC3062006          DOI： 10.1038/ejhg.2010.190

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Authors:  N Darin; H Tajsharghi; I Ostman-Smith; T Gilljam; A Oldfors
Journal:  Neurology       Date:  2007-06-05       Impact factor: 9.910

2.  165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

Authors:  B Udd
Journal:  Neuromuscul Disord       Date:  2009-05-27       Impact factor: 4.296

3.  MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

Authors:  N Muelas; P Hackman; H Luque; M Garcés-Sánchez; I Azorín; T Suominen; T Sevilla; F Mayordomo; L Gómez; P Martí; J María Millán; B Udd; J J Vílchez
Journal:  Neurology       Date:  2010-08-24       Impact factor: 9.910

Review 4.  Hereditary myosin myopathies.

Authors:  Anders Oldfors
Journal:  Neuromuscul Disord       Date:  2007-04-16       Impact factor: 4.296

5.  Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Authors:  P J Lamont; B Udd; F L Mastaglia; M de Visser; P Hedera; T Voit; L R Bridges; V Fabian; A Rozemuller; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-08-15       Impact factor: 10.154

6.  Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Authors:  Christopher Meredith; Ralf Herrmann; Cheryl Parry; Khema Liyanage; Danielle E Dye; Hayley J Durling; Rachael M Duff; Kaye Beckman; Marianne de Visser; Maaike M van der Graaff; Peter Hedera; John K Fink; Elizabeth M Petty; Phillipa Lamont; Vicki Fabian; Leslie Bridges; Thomas Voit; Frank L Mastaglia; Nigel G Laing
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025

7.  Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Authors:  Sebahattin Cirak; Florian von Deimling; Shrikesh Sachdev; Wesley J Errington; Ralf Herrmann; Carsten Bönnemann; Knut Brockmann; Stephan Hinderlich; Tom H Lindner; Alice Steinbrecher; Katrin Hoffmann; Gilbert G Privé; Mark Hannink; Peter Nürnberg; Thomas Voit
Journal:  Brain       Date:  2010-06-16       Impact factor: 13.501

8.  Distal myopathy caused by homozygous missense mutations in the nebulin gene.

Authors:  Carina Wallgren-Pettersson; Vilma-Lotta Lehtokari; Hannu Kalimo; Anders Paetau; Elina Nuutinen; Peter Hackman; Caroline Sewry; Katarina Pelin; Bjarne Udd
Journal:  Brain       Date:  2007-06       Impact factor: 13.501

9.  MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

Authors:  Elena Pegoraro; Bruno F Gavassini; Carlo Borsato; Paola Melacini; Andrea Vianello; Roberto Stramare; Giovanna Cenacchi; Corrado Angelini
Journal:  Neuromuscul Disord       Date:  2007-03-02       Impact factor: 4.296
  9 in total
  1 in total

1.  A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.

Authors:  Francine Parker; Matthew Batchelor; Marcin Wolny; Ruth Hughes; Peter J Knight; Michelle Peckham
Journal:  J Mol Biol       Date:  2018-04-14       Impact factor: 5.469
  1 in total

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