The clinical spectrum of CASQ1-related myopathy.

ABSTRACT:

Objective

To identify and characterize patients with calsequestrin 1 (CASQ1)-related myopathy.

Methods

Patients selected according to histopathologic features underwent CASQ1 genetic screening. CASQ1-mutated patients were clinically evaluated and underwent muscle MRI. Vacuole morphology and vacuolated fiber type were characterized.

Results

Twenty-two CASQ1-mutated patients (12 families) were identified, 21 sharing the previously described founder mutation (p.Asp244Gly) and 1 with the p.Gly103Asp mutation. Patients usually presented in the sixth decade with exercise intolerance and myalgias and later developed mild to moderate, slowly progressive proximal weakness with quadriceps atrophy and scapular winging. Muscle MRI (n = 11) showed a rec

SUBMITTER: Semplicini C 

PROVIDER: S-EPMC6205688 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature