Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized by weakness in the proximal muscles at onset, involving predominantly the lower limbs. At late stages of the disease, loss of muscle bulk in the pelvic girdle and calf may appear. Onset is typically in the late teens or early adulthood.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H01974 Limb-girdle muscular dystrophy 2B
Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M
Title
Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
