Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

ABSTRACT:

Purpose

This study was designed to investigate the characteristics of Korean patients with calpainopathy.

Materials and methods

Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed.

Results

Nine different mutations, including four novel mutations (NM_000070: c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c.2384C>T) were identified. The median age at symptom onset was 22 (interquartile range: 15-28). Common clinical findings were joint contracture in nine patients, winged scapula in four, and lordosis in one. However, we also found highly variable clinical features including early onset joint contractures, asymptomatic hyperCK

SUBMITTER: Park HJ 

PROVIDER: S-EPMC4696950 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature