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Pure quadriceps myopathy in two sisters
Author(s) -
Mahjneh I.,
Somer H.,
Paetau A.,
Marconi G.
Publication year - 2003
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2003.00616.x
Subject(s) - medicine , myopathy , muscle biopsy , creatine kinase , electromyography , weakness , muscle weakness , autosomal recessive inheritance , dysferlin , biopsy , physical medicine and rehabilitation , proximal muscle weakness , pathology , anatomy , muscular dystrophy , gene , genetics , biology
The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow‐up study of 18–21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow‐up study, the patients showed only vasti muscles involvement, normal creatine kinase (CK) levels, myopathic muscle biopsy and electromyography (EMG) and normal membrane protein expression on immunocytochemical analysis. Therefore, all muscle pathologies known to have quadriceps involvement as a leading feature have been ruled out. We conclude that our patients have pure QM with probable autosomal recessive inheritance.