limb-girdle muscular dystrophy type 2G (LGMD2G)

Pathology

• dystrophic changes on muscle biopsy
• absence of muscle telethonin (TCAP)
• cardiac muscle is involved in a subset of patients

Genetics

• autosomal recessive
• associated with defects in TCAP

Clinical manifestations

• proximal & distal muscle weakness
• atrophy in the limbs

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/601954