Clinical and genetic characteristics of Chinese patients with reducing body myopathy

• We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhib...
Ausführliche Beschreibung

• We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. Ausführliche Beschreibung