Clinical Determinants of Disease Progression in Patients With Beta-Sarcoglycan Gene Mutations.

ABSTRACT: Background: Limb-girdle muscular dystrophy 2E (LGMD 2E), recently renamed as autosomal recessive limb-girdle muscular dystrophy-4 (LGMDR4), is characterized by the lack of beta-sarcoglycan, normally expressed in skeletal muscles and cardiomyocytes. We hypothesized that progressive respiratory and left ventricular (LV) failure in LGMDR4 could be associated with the age and interrelated phenomena of the disease's natural history. Methods: We conducted a retrospective review of the records of 26 patients with LGMDR4. Our primary objective was to compare the rates of decline among creatine phosphokinase (CPK) values, pulmonary function test (PFT) measures, and echocardiographic estimates and to relate them to patients' age. Results: The rates of decline/year of CPK, PFTs,

SUBMITTER: Marchetti GB 

PROVIDER: S-EPMC8280524 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature