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authFullName_s : Eva Morava
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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Nicole Monnier , Isabelle Marty , Julien Faure , Claudia Castiglioni , Claude Desnuelle , et al.
Human Mutation, 2008, 29 (5), pp.670-8. ⟨10.1002/humu.20696⟩
Journal articles istex inserm-00381934v1

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Judith Fischer , Caroline Lefèvre , Eva Morava , Jean-Marie Mussini , Pascal Laforêt , et al.
Nature Genetics, 2007, 39 (1), pp.28-30. ⟨10.1038/ng1951⟩
Journal articles inserm-00409618v1