LGMD2 E

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instance_of gptkb:muscular_dystrophy
gptkbp:affects skeletal muscles
gptkbp:associated_with progressive muscle degeneration
gptkbp:breeding_range chromosome 13
gptkbp:caused_by mutation in the SGCG gene
gptkbp:diagnosis genetic testing
gptkbp:first_described_by in the 1990s
https://www.w3.org/2000/01/rdf-schema#label LGMD2 E
gptkbp:inherits_from autosomal recessive
gptkbp:premiered_on childhood to early adulthood
gptkbp:prevalence rare disorder
gptkbp:related_to other types of LGMD
gptkbp:symptoms muscle weakness
muscle wasting
gptkbp:treatment physical therapy
supportive care
gptkbp:bfsParent gptkb:muscular_dystrophy
gptkbp:bfsLayer 5