limb-girdle muscular dystrophy type 2J (LGMD2J)

Genetics

• homozygous mutations in the titin gene cause LGMD2J, while heterozygous mutations cause tardive-tibial muscular dystrophy

More general terms

• limb-girdle muscular dystrophy; Erb's muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/608807