Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

BACKGROUND: Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were o...

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Detalles Bibliográficos
Autores principales: Romero, Norma B, Xie, Ting, Malfatti, Edoardo, Schaeffer, Ursula, Böhm, Johann, Wu, Bin, Xu, Fengping, Boucebci, Samy, Mathis, Stéphane, Neau, Jean-Philippe, Monnier, Nicole, Fardeau, Michel, Laporte, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Neuromuscular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173876/
https://www.ncbi.nlm.nih.gov/pubmed/24828896
http://dx.doi.org/10.1136/jnnp-2013-306754

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173876/
https://www.ncbi.nlm.nih.gov/pubmed/24828896
http://dx.doi.org/10.1136/jnnp-2013-306754

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