Literature DB >> 24805292

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.

J Díaz-Manera1, A Alejaldre, J Llauger, S Mirabet, R Rojas-García, A Ramos-Fransi, E Gallardo, I Illa.   

Abstract

Entities:  

Keywords:  Laing disease; MYH7 gene; axial weakness; cardiomyopathy; muscle dystrophy

Mesh：

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Year:  2014        PMID： 24805292     DOI： 10.1111/ene.12416

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  2 in total

Review 1.  A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

Authors:  Ingrid Bader; M Freilinger; F Landauer; S Waldmüller; W Mueller-Felber; C Rauscher; W Sperl; R E Bittner; W M Schmidt; J A Mayr
Journal:  Orphanet J Rare Dis       Date:  2022-07-19       Impact factor: 4.303

2.  A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.

Authors:  Jean Mamelona; Louisa Filice; Youcef Oussedik; Nicolas Crapoulet; Rodney J Ouellette; Alier Marrero
Journal:  BMC Med Genet       Date:  2019-05-08       Impact factor: 2.103
  2 in total

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