The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Fischer J; Lefèvre C; Morava E; Mussini JM; Laforêt P; Negre-Salvayre A; Lathrop M; Salvayre R; Nature Genetics, 2007, vol. 39, issue 1, p 28, ISSN 10614036. ISBN 10614036.

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