Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center

We described two LGMD-R7 patients presenting a classical LGMD phenotype and a novel homozygousTCAP mutation. Our research expands the spectrum of LGMD-R7 due toTCAP mutations based on patients from a Chinese neuromuscular center.

http://rd.springer.com/10.1007/s10048-021-00681-2

Source: Neurogenetics - January 4, 2022 Category: Genetics & Stem Cells Source Type: research