title: Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
abstract: Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi Myopathy are caused by mutations in the dysferlin gene. The phenotype of these allelic disease variants can vary considerably. We report on an adolescent female with a severe and rapidly progressing clinical course of LGMD2B which has been suggested by the muscle histopathology and Western blot and proven by mutation analysis in the Dysferlin gene. We detected a novel compound heterozygous mutation of which one affects the extracellular part of the protein. This is the first report on a mutation in this region of dysferlin and might explain the unusual phenotype of the patient.
authors.affiliation: Department of Neuropaediatrics, Charité Medical Centre, Berlin, Germany. alexander.diers@charite.de
authors.forename: Alexander
authors.initials: A
authors.lastname: Diers
authors.forename: Miriam
authors.initials: M
authors.lastname: Carl
authors.forename: Gisela
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
authors.forename: Simone
authors.initials: S
authors.lastname: Spuler
mesh_terms: D000293:Adolescent; D015153:Blotting, Western; D018389:Codon, Nonsense / Q000502:physiology*; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D000073939:Dysferlin; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006579:Heterozygote; D006801:Humans; D006984:Hypertrophy; D007150:Immunohistochemistry; D007866:Leg / Q000473:pathology*; D008565:Membrane Proteins / Q000235:genetics*; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D004247:DNA