A missense c.80G＞A mutation in the CAV3 gene in a Han Chinese family with rippling muscle disease

Background Rippling muscle disease (RMD), one of the special clinical phenotypes of caveolinopathies, is characterized by muscle hyperexcitability causing by mutations in the CAV3 gene. Few data exist on muscle MRI in patients with RMD, frequently reported as normal. Methods Here, we describe a Han Chinese family with RMD. Whole exome sequencing (WES), muscle MRI, and tissue biopsy were performed in this study. Results The proband and his mother presented with RMD, which was initially noticed during their childhood or adolescence, accompanied with increased level of serum creatine kinase (CK). Biopsy specimen illustrated slight variation in fiber size and increased numbers of internal nuclei in the muscle fibers, without obvious atrophy. Muscle MRI of the thighs showed short-tau inversion recovery (STIR) hyperintensity without fatty replacement. WES identified a heterozygous missense mutation of c.80G>A (p.R27Q) in the CAV3 gene. Conclusions Our findings deepen our awareness of the muscle MRI and pathological features of hereditary RMD. Regarding muscle MRI, this study first reports STIR hyperintensity in the thighs, which may be linked with muscle oedema.