title: [A case of dysferlinopathy asymptomatic for 10 years after an episode of transient muscle weakness].
abstract: We report a 28-year-old male with dysferlinopathy, who has remained asymptomatic for 10 years from a rhabdomyolysis-like episode. He had been in good health since birth, but felt difficulty in walking after a month and a half of manual labor at 18 years old (at the year 2000). Rhabdomyolysis was suspected because of muscle weakness and elevated serum CK of 28,094U/L. He was hospitalized and his muscle weakness improved. He was referred to us, because his serum CK remained around 2,000U/L. Histological analysis of muscle, when anti-dysferlin antibody was unavailable, was not informative but later analysis at the age of 23 using preserved specimen showed loss of dysferlin immunoreactivity. Subsequently, a missense mutation (c.2997G>T) and a deletion (c.3373delG) of the dysferlin gene, both of which are common in Miyoshi myopathy in Japanese, were identified. He continuously showed hyper-CKemia, but no apparent muscle weakness emerged for more than ten years. Reports on asymptomatic dysferlinopathy over such a long duration are rare. This case may suggest that genetic factors, environmental factors such as intensity of work-load, or both, might affect the clinical course of dysferlinopathy. Further follow-up is necessary.
authors: Department of Neurology, Osaka University Hospital.
authors: Yoshito
authors: Y
authors: Kobayashi
authors: Toshiaki
authors: T
authors: Takahashi
authors: Hisae
authors: H
authors: Sumi
authors: Harutoshi
authors: H
authors: Fujimura
authors: Masashi
authors: M
authors: Aoki
authors: Masanori
authors: M
authors: P Takahashi
authors: Saburo
authors: S
authors: Sakoda
mesh_terms: D000293:Adolescent; D000073939:Dysferlin; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000209:etiology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis*
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins