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Familial centronuclear myopathy
Author(s) -
Pavone Lorenzo,
Mollica Florindo,
Grasso Antonio,
Pero Giuseppe
Publication year - 1980
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1980.tb03001.x
Subject(s) - penetrance , myopathy , inheritance (genetic algorithm) , girl , medicine , physical medicine and rehabilitation , pathology , psychology , genetics , developmental psychology , biology , phenotype , gene
A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.