Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

ABSTRACT: Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. In our study all patients presented with highly similar clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a chara

SUBMITTER: Johari M 

PROVIDER: S-EPMC8270885 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature