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Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.
Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H. Hiraide T, et al. Brain Dev. 2019 May;41(5):474-479. doi: 10.1016/j.braindev.2019.01.005. Epub 2019 Feb 2. Brain Dev. 2019. PMID: 30723005
He had myalgia and muscle stiffness. Interestingly, percussion-induced muscle mounding (PIMM), which is a characteristic of rippling muscle disease, was also observed. ...
He had myalgia and muscle stiffness. Interestingly, percussion-induced muscle mounding (PIMM), which is a characteristic of ri …
Rippling muscle disease in childhood.
Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W. Schara U, et al. J Child Neurol. 2002 Jul;17(7):483-90. doi: 10.1177/088307380201700703. J Child Neurol. 2002. PMID: 12269726
Initial symptoms were frequent falls, inability to walk on heels, tiptoe walking with pain and a warm-up phenomenon, calf hypertrophy, and an elevated serum creatine kinase level. Percussion-/pressure-induced rapid contractions, painful muscle mounding, and rippling …
Initial symptoms were frequent falls, inability to walk on heels, tiptoe walking with pain and a warm-up phenomenon, calf hypertrophy, and a …
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG. Van den Bergh PY, et al. J Neurol Neurosurg Psychiatry. 2004 Sep;75(9):1349-51. doi: 10.1136/jnnp.2003.028217. J Neurol Neurosurg Psychiatry. 2004. PMID: 15314133 Free PMC article.
Neurological examination revealed percussion induced rapid muscle contractions (PIRCs) and localised muscle mounding on percussion; muscle rippling was not observed. Creatine kinase (CK) was elevated but electromyography and nerve conduction studies were norm …
Neurological examination revealed percussion induced rapid muscle contractions (PIRCs) and localised muscle mounding on percus …
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Hayashi YK, et al. J Clin Invest. 2009 Sep;119(9):2623-33. doi: 10.1172/JCI38660. Epub 2009 Aug 10. J Clin Invest. 2009. PMID: 19726876 Free PMC article.
Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. Muscle hypertrophy, muscle mounding, mild metabolic complications, and elevated serum creatine kinase levels were observed …
Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. …
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BG, Mortier W. Vorgerd M, et al. Neurology. 2001 Dec 26;57(12):2273-7. doi: 10.1212/wnl.57.12.2273. Neurology. 2001. PMID: 11756609
BACKGROUND: RMD is a rare myopathy characterized by percussion-induced rapid muscle contractions (PIRC), muscle mounding, and rippling waves. We have recently found that autosomal dominant RMD is caused by mutations in the caveolin-3 gene (CAV3) on chromosome 3p25. …
BACKGROUND: RMD is a rare myopathy characterized by percussion-induced rapid muscle contractions (PIRC), muscle mounding, and …