Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.

Sook Joung LeeEunseok ChoiSoyoung ShinJoonhong Park

Published in: Medicine (2020)

Gene panel sequencing allows for the correct recognition of different LGMD subtypes, improving timely treatment, management, and enrolment of molecularly diagnosed individuals in clinical trials.

Keyphrases

muscular dystrophy
clinical trial
single cell
copy number
genome wide
duchenne muscular dystrophy
genome wide identification
gene expression
phase ii
transcription factor
replacement therapy
study protocol