Key result
Centronuclear myopathy in a pedigree with four affected members suggests an autosomal dominant inheritance pattern with low penetrance.
The case report suggests autosomal dominant inheritance with low penetrance for centronuclear myopathy.
Hypothesis-generating for low-penetrance autosomal dominant inheritance; should not yet alter genetic counseling or testing strategies.
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.
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Mollica et al. (2009) studied this question. Centronuclear myopathy in a pedigree with four affected members suggests an autosomal dominant inheritance pattern with low penetrance.
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