title: Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.
abstract: 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 a patient who is compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in theTNNT1 gene. This report confirms the specific clinical phenotype ofTNNT1 NM and documents two newTNNT1 mutations outside the old order Amish.
authors.affiliation: Rudolf Magnus Institute of Neuroscience, Department of Neurology and Neurosurgery, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: W Ludo
authors.initials: WL
authors.lastname: van der Pol
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Jolien F
authors.initials: JF
authors.lastname: Leijenaar
authors.affiliation: Department of Pathology, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Wim G M
authors.initials: WG
authors.lastname: Spliet
authors.affiliation: Department of Pathology, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Selma W
authors.initials: SW
authors.lastname: Lavrijsen
authors.affiliation: Department of Pathology, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Nicolaas J G
authors.initials: NJ
authors.lastname: Jansen
authors.affiliation: Rudolf Magnus Institute of Neuroscience, Department of Neurology and Neurosurgery, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Kees P J
authors.initials: KP
authors.lastname: Braun
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Marcel
authors.initials: M
authors.lastname: Mulder
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Timmers-Raaijmakers
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Ratsma
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
authors.forename: Mieke M
authors.initials: MM
authors.lastname: van Haelst
keywords: Nemaline myopathy; TNNT1; troponin T1