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Rippling muscle disease: variable phenotype in a family with five afflicted members

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-in...

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Autori principali: Jacobi, Christian (Autore) , Ruscheweyh, Ruth (Autore) , Vorgerd, Matthias (Autore) , Weber, Marc-André (Autore) , Storch-Hagenlocher, Brigitte (Autore) , Meinck, Hans-Michael (Autore)
Natura: Article (Journal)
Lingua:inglese
Pubblicazione: [January 2010]
In: Muscle & nerve
Year: 2010, Volume: 41, Fascicolo: 1, Pages: 128-132
ISSN:1097-4598
DOI:10.1002/mus.21446
Accesso online:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/mus.21446
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.21446
Testo
Note sull'autore:Christian Jacobi, MD, Ruth Ruscheweyh, MD, Matthias Vorgerd, MD, Marc-André Weber, MD, MSc, Brigitte Storch-Hagenlocher, MD, and Hans Michael Meinck, MD
Descrizione
Riassunto: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
Descrizione del documento:First published: 20 August 2009
Gesehen am 11.07.2023
Descrizione fisica:Online Resource
ISSN:1097-4598
DOI:10.1002/mus.21446

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