Asymmetrical anterior thigh muscle atrophy as an atypical presentation of RYR1-core myopathy

Neuromuscul Disord. 2021 Aug;31(8):798-799. doi: 10.1016/j.nmd.2021.05.003. Epub 2021 May 24.

¹ UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: guidoalessandro.primiano@policlinicogemelli.it.
² Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
³ UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Fondazione UILDM LAZIO onlus, Italy.
⁴ UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.

No abstract available

Keywords: Asymmetric myopathy; Central core disease; Core myopathy; Muscle MRI; RYR1 gene.

MeSH terms