Limb-girdle muscular dystrophy 2B

Definition:

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.

References:

[1]. I Illa, et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology. 2007 Apr 17;68(16):1284-9. [Content Brief]

[2]. S N Illarioshkin, et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology. 2000 Dec 26;55(12):1931-3. [Content Brief]

[3]. Sylwia Szymanska, et al. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies. Folia Neuropathol. 2014;52(4):452-6. [Content Brief]

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