Ontology highlight
ABSTRACT:
SUBMITTER: van der Pol WL
PROVIDER: S-EPMC3960055 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
van der Pol W Ludo WL Leijenaar Jolien F JF Spliet Wim G M WG Lavrijsen Selma W SW Jansen Nicolaas J G NJ Braun Kees P J KP Mulder Marcel M Timmers-Raaijmakers Brigitte B Ratsma Kimberly K Dooijes Dennis D van Haelst Mieke M MM
Molecular genetics & genomic medicine 20131212 2
Nemaline myopathy (NM) is genetically heterogeneous disorder characterized by early onset muscular weakness and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers. Thus far, mutations in seven genes have been identified as cause of NM. Only one singleTNNT1 nonsense mutation has been previously described that causes autosomal recessive NM in the old order Amish with a very specific clinical phenotype including rapidly progressive contractures. Here, we report ...[more]