Distal anterior compartment myopathy with early ankle contractures.
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.
Saito
Hiroshi
H
Department of Neurology, Akita Red Cross Hospital, Akita, Japan.
Suzuki
Naoki
N
Ishiguro
Hideaki
H
Hirota
Koichi
K
Itoyama
Yasuto
Y
Takahashi
Toshiaki
T
Aoki
Masashi
M
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