title: A new phenotype of dysferlinopathy with congenital onset.
abstract: We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted. Initial MRI showed no abnormalities but short-time-inversion-recovery (STIR) sequences revealed a striking myoedema in gastrocnemius and hamstring muscles at the age of 5. Muscle biopsy showed mild dystrophic features and the absence of dysferlin. Dysferlin gene (DYSF) analysis revealed a p.Ala927LeufsX21 mutation in a homozygous state in both siblings. This new phenotype widens the clinical spectrum of dysferlin myopathies.
authors.affiliation: Department of Neurology, Hospital de Valme, Sevilla, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Paradas
authors.forename: L
authors.initials: L
authors.lastname: González-Quereda
authors.forename: N
authors.initials: N
authors.lastname: De Luna
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: I
authors.initials: I
authors.lastname: García-Consuegra
authors.forename: H
authors.initials: H
authors.lastname: Gómez
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: I
authors.initials: I
authors.lastname: Illa
authors.forename: P
authors.initials: P
authors.lastname: Gallano
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001706:Biopsy; D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis / Q000378:metabolism; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D004487:Edema / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D005819:Genetic Markers; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase