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Rippling muscle disease: Variable phenotype in a family with five afflicted members
Author(s) -
Jacobi Christian,
Ruscheweyh Ruth,
Vorgerd Matthias,
Weber MarcAndré,
StorchHagenlocher Brigitte,
Meinck Hans Michael
Publication year - 2010
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.21446
Subject(s) - rippling , daughter , phenotype , genetics , disease , biology , gene , medicine , evolutionary biology , computer science , programming language
We report a family with rippling muscle disease (RMD) who had an autosomal dominant mode of inheritance. The father, mother, and one daughter proved to be heterozygous, and two sons were homozygous for the A92T mutation of the caveolin‐3 gene. The cardinal features of RMD, particularly percussion‐induced rapid contractions, muscle mounding, and muscle rippling, varied considerably among these subjects. Moreover, all examined individuals showed muscle weakness; however, the patterns were inconsistent. Muscle Nerve, 2010