Abstract
CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.41Dominant TNNC2 mutations cause a distinct congenital myopathy with vocal cord paralysis, ophthalmoplegia and clinical improvement over time
Neuromuscular disorders : NMD, Vol.28, pp.S43-S43
10/2018
DOI: 10.1016/j.nmd.2018.06.069
Abstract
abstract only
Details
- Title: Subtitle
- CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.41Dominant TNNC2 mutations cause a distinct congenital myopathy with vocal cord paralysis, ophthalmoplegia and clinical improvement over time
- Creators
- S Donkervoort - National Institutes of HealthP Mohassel - National Institutes of HealthN Voermans - Radboud University NijmegenC Quinn - University of PennsylvaniaM van de Locht - University Medical Centre, Amsterdam, The NetherlandsJ de Winter - University Medical Centre, Amsterdam, The NetherlandsS Conijn - University Medical Centre, Amsterdam, The NetherlandsM Helmes - University Medical Centre, Amsterdam, The NetherlandsL Medne - Medical Genetics CenterO Lopes Abath Neto - National Institutes of HealthS Moore - University of IowaC Ottenheijm - University Medical Centre, Amsterdam, The NetherlandsA.R Foley - National Institutes of HealthC Bönnemann - National Institutes of Health
- Resource Type
- Abstract
- Publication Details
- Neuromuscular disorders : NMD, Vol.28, pp.S43-S43
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.nmd.2018.06.069
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 10/2018
- Academic Unit
- Pathology
- Record Identifier
- 9984201523902771
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