title: Distal anterior compartment myopathy with early ankle contractures.
abstract: Dysferlinopathies exhibit marked heterogeneity in the initial distribution of muscle involvement at the onset of the disease. We describe a Japanese patient with dysferlinopathy who exhibited distal anterior compartment myopathy (DACM) with early contractures of the ankle, whose pedigree included patients with two other types of dysferlinopathy. The existence of three phenotypes of dysferlinopathy in one pedigree is reported, indicating the involvement of molecules other than dysferlin in the pathogenesis.
authors.affiliation: Department of Neurology, Akita Red Cross Hospital, Akita, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Saito
authors.forename: Naoki
authors.initials: N
authors.lastname: Suzuki
authors.forename: Hideaki
authors.initials: H
authors.lastname: Ishiguro
authors.forename: Koichi
authors.initials: K
authors.lastname: Hirota
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Itoyama
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Takahashi
authors.forename: Masashi
authors.initials: M
authors.lastname: Aoki
mesh_terms: D000328:Adult; D000842:Ankle; D000868:Anterior Compartment Syndrome / Q000150:complications* / Q000235:genetics; D003286:Contracture / Q000209:etiology*; D049310:Distal Myopathies / Q000150:complications* / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male