P.139 A cross sectional study of genetically confirmed cohort of facioscapulohumeral muscular dystrophy (FSHD) in the Indian population

Facioscapulohumeral muscular dystrophy (FSHD) is the second most common autosomal dominant muscular dystrophy in adults worldwide. FSHD in India has always been a clinical diagnosis as there are no facilities for diagnostic testing in India, either in the private or public sector. Currently, patients send their blood samples to diagnostic or research labs in Europe or North America to get a diagnostic or research report, respectively. The study was conducted at the AIIMS comprehensive neuromuscular disorders (AIIMS-CNMD) centre, one of the partner centres of the international centre for genomic medicine in neuromuscular disorders (ICGNMD).
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research