title: Late onset in dysferlinopathy widens the clinical spectrum.
abstract: LGMD2B, Miyoshi Myopathy and Distal Anterior Compartment Myopathy are caused by mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and wasting with onset usually within the second or third decade of life. We here present a patient with disease onset at 73 years. The presenting symptom was exercise-induced stiffness of the trunk and proximal leg muscles without major progression over a period of 12 years. Gastrocnemius muscle biopsy revealed dystrophic morphology and biochemical depletion of dysferlin, while sequence analysis revealed compound heterozygous splicing mutations of the dysferlin gene. This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease.
authors.affiliation: Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom. lars.klinge@ncl.ac.uk
authors.forename: L
authors.initials: L
authors.lastname: Klinge
authors.forename: A F
authors.initials: AF
authors.lastname: Dean
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: P
authors.initials: P
authors.lastname: Dixon
authors.forename: R
authors.initials: R
authors.lastname: Charlton
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: L V
authors.initials: LV
authors.lastname: Anderson
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.forename: R
authors.initials: R
authors.lastname: Barresi
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.forename: K
authors.initials: K
authors.lastname: Bushby
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins