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Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
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2010 (English)In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 41, no 6, 751-757 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2010. Vol. 41, no 6, 751-757 p.
Keyword [en]
Caveolin-3, electromyogram, mutation, rippling, stiffness
National Category
Medical and Health Sciences
Research subject
Neurology
Identifiers
URN: urn:nbn:se:uu:diva-126255DOI: 10.1002/mus.21589ISI: 000278285300004PubMedID: 20229577OAI: oai:DiVA.org:uu-126255DiVA: diva2:322594
Available from: 2010-06-07 Created: 2010-06-07 Last updated: 2017-12-12Bibliographically approved
In thesis
1. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease: Translational Studies of Two Neurogenetic Diseases
Open this publication in new window or tab >>Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease: Translational Studies of Two Neurogenetic Diseases
2011 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. This thesis describes clinical and genetic studies of two single-gene diseases:

1) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) caused by LMNB1 gene duplications, and characterized by autonomic, pyramidal and cerebellar symptoms. Spinal cords of patients with ADLD were studied by MRI and found to be thin, with high signal intensity in white matter. Histopathology showed loss of myelinated fibres with some reactive gliosis. DNA samples from four different families with ADLD were obtained, and the LMNB1 gene was screened for duplications. Single nucleotide polymorphism array revealed LMNB1 duplications in all ADLD families. LMNB1 mRNA and protein levels were assessed in white blood cells using quantitative polymerase chain reaction and Western blot, and increased levels of LMNB1 mRNA and lamin B1 protein could be demonstrated. We concluded that spinal cord atrophy in patients with ADLD is a valuable differential diagnostic sign, and that increased levels of LMNB1 can be detected in peripheral blood.

2) Rippling muscle disease (RMD) is caused by CAV3 gene mutations. Clinical features are percussion-induced muscle mounding, –rapid contractions and undulating muscle contractions (rippling). The CAV3 gene was sequenced in 38 members of a family with RMD. Twenty-two individuals had clinical features of RMD. No muscle weakness was seen. All patients with signs of RMD carried the p.A46T CAV3 mutation, showing that the p.A46T mutation was benign and that the diagnosis can be made clinically. In vitro contracture test results from 10 of the subjects were collected, but no association between pathological test results and RMD was found.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2011. 76 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 726
Keyword
Inborn genetic diseases, Leukoencephalopathies, Lamin type B, Muscular disease, Caveolin 3
National Category
Neurology
Research subject
Neurology
Identifiers
urn:nbn:se:uu:diva-162048 (URN)978-91-554-8230-5 (ISBN)
Public defence
2012-01-13, Grönwallsalen, Akademiska sjukhuset, Ing 70, Uppsala, 09:15 (English)
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Available from: 2011-12-20 Created: 2011-11-23 Last updated: 2012-01-03Bibliographically approved

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Sundblom, JimmyStålberg, ErikSmits, AnjaDahl, NiklasMelberg, Atle

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