Case Report: Limb-girdle Muscular Dystrophy with New Mutation in SGCB gene

Limb girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscleweakness and they are heterogonous diseases. The following study reports a four years female of autosomalrecessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in thispatient that was not reported for our population. One of them was important clinically that exists as unreportedhomozygous deletion encompassing exon 2 of the SGCB gene. The use of Next Generation Sequencing (NGS) inthe diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. We used theNGS method for the first time to analysis the mutation in this family.

کلیدواژه ها:

Limb girdle muscular dystrophy ، Next generation sequencing ، SGCB gene