Letter to the Editor
Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene
J. Díaz-Manera,
J. Díaz-Manera
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
A. Alejaldre,
A. Alejaldre
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
J. Llauger,
J. Llauger
Radiology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Search for more papers by this author
S. Mirabet,
S. Mirabet
Cardiology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Search for more papers by this author
R. Rojas-García,
R. Rojas-García
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
A. Ramos-Fransi,
A. Ramos-Fransi
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
E. Gallardo,
E. Gallardo
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
I. Illa,
I. Illa
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
J. Díaz-Manera,
J. Díaz-Manera
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
A. Alejaldre,
A. Alejaldre
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
J. Llauger,
J. Llauger
Radiology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Search for more papers by this author
S. Mirabet,
S. Mirabet
Cardiology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Search for more papers by this author
R. Rojas-García,
R. Rojas-García
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
A. Ramos-Fransi,
A. Ramos-Fransi
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
E. Gallardo,
E. Gallardo
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
I. Illa,
I. Illa
Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu I Sant Pau de Barcelona, Barcelona, Spain
Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain
Search for more papers by this author
First published: 08 May 2014
Correspondence: I. Illa, Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, C/Sant Antoni Mª Claret 167, 08025 Barcelona, Spain (tel.: +34 9355 65977; fax: +34 9355 65602; e-mail:
[email protected]).
No abstract is available for this article.
References
- 1Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol 2013; 125: 3–18.
- 2Buvoli M, Hamady M, Leinwand LA, et al. Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations. Trends Cardiovasc Med 2008; 18: 141–149.
- 3Muelas N, Hackman P, Luque H, et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 2010; 75: 732–741.
- 4Overeem S, Schelhaas HJ, Blijham PJ, et al. Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. Neuromuscul Disord 2007; 17: 490–493.
- 5Homayoun H, Khavandgar S, Hoover JM, et al. Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. Neuromuscul Disord 2011; 21: 219–222.
- 6Darin N, Tajsharghi H, Ostman-Smith I, et al. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology 2007; 68: 2041–2042.
- 7Park JM, Kim YJ, Yoo JH, et al. A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. Neuromuscul Disorders 2013; 23: 580–586.
- 8Voit T, Kutz P, Leube B, et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord 2001; 11: 11–19.
- 9Rayment I, Holden HM, Sellers JR, et al. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1995; 92: 3864–3868.
- 10Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992; 326: 1108–1114.
