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RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient
1 INTRODUCTION Rare genetic diseases affect at least 1 in 50 individuals worldwide (http://orphanet.net).
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
Twitter @carbar31 APM and CLB contributed equally. Contributors APM, JR, KM and KAR were involved in the design of this study. APM, CLB, JR, KM, TM, RL and CES completed patient chart review and data entry. APM, CLB, JR, KM, TM, RL and CES drafted and reviewed the final publication. APM is the study guarantor. Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors. Competing interests None declared.
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