The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research

Author:

Bullivant JoanneORCID,Sen Anando,Page Jess,Graham Robert J.,Jungbluth Heinz,Schara-Schmidt Ulrike,Lynch Orla,Bönnemann Carsten,Hollander Aart den,Lennox Anne,Moat Dionne,Saegert Claudia,Amburgey Kimberly,Buj-Bello Ana,Dowling James J.,Marini-Bettolo Chiara

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference30 articles.

1. Care DoHaS. The UK rare diseases framework 2021 [Available from: https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework.

2. Administration USFD. Rare diseases at FDA 2022 [Available from: https://www.fda.gov/patients/rare-diseases-fda.

3. X-linked myotubular and centronuclear myopathies;Pierson;J Neuropathol Exp Neurol,2005

4. Centronuclear (myotubular) myopathy;Jungbluth;Orphanet J Rare Dis,2008

5. Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands;Reumers;Clin Genet,2021

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