Population
46 individuals from two unrelated German kindreds with hereditary rippling muscle disease (RMD)
Design
Case_series
Authors
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Supports RMD phenotypic variability with percussion features as hallmark; leaves open additional loci beyond 1q4.
The phenotype of RMD is variable, with generalized percussion-induced rapid muscle contractions being the most reliable clinical feature, and genetic heterogeneity exists as linkage to chromosome 1q4 was excluded in these kindreds.
Vorgerd et al. (1999) studied this question.
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