Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy

Myofibrillar myopathies (MFM) are muscle disorders characterized by myofibrillar disruption beginning at the Z-discs and abnormal accumulation of sarcoplasmic proteins [1]. Mutations in the gene encoding for alphaB-crystallin (CRYAB) are a rare cause of MFM.

Source: Journal of the Neurological Sciences - June 22, 2020 Category: Neurology Authors: Sara Bortolani, Fabiana Fattori, Mauro Monforte, Enzo Ricci, Giorgio Tasca Tags: Letter to the Editor Source Type: research