Population
29 members of a family evaluated for a new phenotype associated with dilated cardiomyopathy and quadriceps…
Design
Case_series
Authors
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Cardiac features may precede neuromuscular signs in LMNA mutations; extends laminopathy phenotypes but leaves open need for proactive screening.
Identifies a novel phenotype of severe dilated cardiomyopathy with conduction defects and quadriceps myopathy caused by a lamin A/C gene mutation, where cardiac manifestations precede neuromuscular disorders.
Charniot et al. (2005) studied this question.
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