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ELECTROMYOGRAPHIC EVIDENCE OF A MUSCLE LESION IN HOMOCYSTINURIA
Author(s) -
Hurwitz L. J.,
Chopra J. S.,
Carson Nina A. J.
Publication year - 1968
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1968.tb07311.x
Subject(s) - homocystinuria , medicine , myopathy , lesion , muscle disease , gait , pediatrics , disease , pathology , physical medicine and rehabilitation , genetics , methionine , amino acid , biology
Summary In seven out of nine patients with homocystinuria, electromyographic examination suggested a myopathy. The E. M. G. was also abnormal and of myopathic type in three of the parents. The implication of this finding in homocystinuria and in unaffected relatives is discussed. It is concluded that there is a muscle lesion in homocystinuria which is probably myopathic and is one factor producing the peculiar gait present in this disease.