Title: | Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. |
Journal : | Journal of neurology, neurosurgery and psychiatry, 85, 10 |
Authors: | Romero NB ; Xie T ; Malfatti E ; Schaeffer U ; Bohm J ; Wu B ; Xu F ; Boucebci S ; Mathis S ; Neau JP ; Monnier N ; Fardeau M ; Laporte J |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 1149 |
Languages: | English |
Keywords : | autosomal dominant inheritance ; case studies ; clinical presentation ; congenital myopathy ; core and rod myopathy ; electron microscopy ; genetic mutations ; muscle weakness ; MYH7 gene ; slow twitch muscle fibers |
Keywords: | muscle disease;myopathy;neuropathology;muscle; |
Lien associé : | Texte complet disponible sur le site de l'éditeur |
Pubmed / DOI : | DOI : 10.1136/jnnp-2013-306754 / Pubmed : 24828896 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24828896 |
See also : |