Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
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.
Diers
Alexander
A
Department of Neuropaediatrics, Charité Medical Centre, Berlin, Germany. alexander.diers@charite.de
Carl
Miriam
M
Stoltenburg-Didinger
Gisela
G
Vorgerd
Matthias
M
Spuler
Simone
S
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
D018389:Codon, Nonsense; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D004247:DNA