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Clinical and genetic features of Calpainopathies...
Journal article

Clinical and genetic features of Calpainopathies in Saudi Arabia - a descriptive cross-sectional study.

Abstract

OBJECTIVE: Limb-girdle muscular dystrophies (LGMD) is a heterogeneous group of genetic disorders characterized by progressive weakness of pelvic and shoulder girdle muscles. The objective is to characterize the phenotypic, pathological, radiological, and genetic findings in LGMD2A phenotype (Calpainopathies). PATIENTS AND METHODS: The National Saudi Arabian LGMD cohort database was screened for LGMD from January 2000 to January 2021. A …

Authors

Alharbi N; Shosha E; Murad H; Alhomud I; Alshehri A; Almuhaizea M; Cupler E; Al-Hindi H; Monies D; Bohlega S

Journal

European review for medical and pharmacological sciences, Vol. 25, No. 15, pp. 4941–4952

Publication Date

8 2021

DOI

10.26355/eurrev_202108_26451

ISSN

1128-3602