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Bedside Diagnosis of Rippling Muscle Disease in Cav3 P.A46T Mutation Carriers

Sundblom, Jimmy; Stalberg, Erik; Osterdahl, Maria; Rucker, Franz; Montelius, Maria; Kalimo, Hannu; Nennesmo, Inger; Islander, Gunilla LU ; Smits, Anja and Dahl, Niklas, et al. (2010) In Muscle and Nerve 41(6). p.751-757
Abstract
Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions (PIRC). Rippling and hyperCKemia were not found in all patients. Weakness was minor or absent. The electromyogram showed absence of electrical activity in ripples and PIMM, and muscle biopsy specimens confirmed caveolin-3 deficiency and absence of caveolae. Genetic analysis revealed a CAV3 c.G136A transition resulting in a p.A46T missense... (More)
Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions (PIRC). Rippling and hyperCKemia were not found in all patients. Weakness was minor or absent. The electromyogram showed absence of electrical activity in ripples and PIMM, and muscle biopsy specimens confirmed caveolin-3 deficiency and absence of caveolae. Genetic analysis revealed a CAV3 c.G136A transition resulting in a p.A46T missense mutation in affected family members. The phenotype in these 23 cases of RMD with this mutation appears to be homogenous, benign, and nonprogressive. The presence of PIMM and PIRC seems to be diagnostic at all ages, whereas the absence of hyperCKemia and rippling does not exclude the diagnosis. Muscle Nerve 41: 751-757,2010 (Less)
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publication status
published
subject
keywords
stiffness, rippling, mutation, Caveolin-3, electromyogram
in
Muscle and Nerve
volume
41
issue
6
pages
751 - 757
publisher
John Wiley & Sons
external identifiers
  • wos:000278285300004
  • scopus:77953046671
ISSN
0148-639X
DOI
10.1002/mus.21589
language
English
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yes
id
05c8ad2c-0220-49a9-adb9-670567b611a4 (old id 1631756)
date added to LUP
2010-07-22 12:27:03
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2018-01-07 04:21:30
@article{05c8ad2c-0220-49a9-adb9-670567b611a4,
  abstract     = {Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions (PIRC). Rippling and hyperCKemia were not found in all patients. Weakness was minor or absent. The electromyogram showed absence of electrical activity in ripples and PIMM, and muscle biopsy specimens confirmed caveolin-3 deficiency and absence of caveolae. Genetic analysis revealed a CAV3 c.G136A transition resulting in a p.A46T missense mutation in affected family members. The phenotype in these 23 cases of RMD with this mutation appears to be homogenous, benign, and nonprogressive. The presence of PIMM and PIRC seems to be diagnostic at all ages, whereas the absence of hyperCKemia and rippling does not exclude the diagnosis. Muscle Nerve 41: 751-757,2010},
  author       = {Sundblom, Jimmy and Stalberg, Erik and Osterdahl, Maria and Rucker, Franz and Montelius, Maria and Kalimo, Hannu and Nennesmo, Inger and Islander, Gunilla and Smits, Anja and Dahl, Niklas and Melberg, Atle},
  issn         = {0148-639X},
  keyword      = {stiffness,rippling,mutation,Caveolin-3,electromyogram},
  language     = {eng},
  number       = {6},
  pages        = {751--757},
  publisher    = {John Wiley & Sons},
  series       = {Muscle and Nerve},
  title        = {Bedside Diagnosis of Rippling Muscle Disease in Cav3 P.A46T Mutation Carriers},
  url          = {http://dx.doi.org/10.1002/mus.21589},
  volume       = {41},
  year         = {2010},
}