De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy
Titel:
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy
Auteur:
Durling, H.J Reilich, P Müller-Höcker, J Mendel, B Pongratz, D Wallgren-Pettersson, C Gunning, P Lochmüller, H Laing, N.G