Premium
Distal anterior compartment myopathy with early ankle contractures
Author(s) -
Saito Hiroshi,
Suzuki Naoki,
Ishiguro Hideaki,
Hirota Koichi,
Itoyama Yasuto,
Takahashi Toshiaki,
Aoki Masashi
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20836
Subject(s) - muscle contracture , myopathy , dysferlin , compartment (ship) , ankle , medicine , pathogenesis , phenotype , anatomy , biology , skeletal muscle , genetics , oceanography , geology , gene
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. Muscle Nerve, 2007