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Autosomal recessive generalized myotonia
Author(s) -
Sun Sallie F.,
Streib Erich W.
Publication year - 1983
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.880060210
Subject(s) - myotonia , myotonia congenita , muscle contracture , muscle biopsy , medicine , weakness , electromyography , rest (music) , cousin , myopathy , anatomy , myotonic dystrophy , physical medicine and rehabilitation , biopsy , history , archaeology
Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.