Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 9, 2004, Pages 1349-1351

  Vann Den Bergh, P Y K ^a   Gerard J M ^b   Elosegi, J A ^b   Manto, M U ^c   Kubisch, C ^d   Schoser, B G H ^e  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b Centre Hospitalier Universitaire Ambroise Pare   (Belgium)

^c ERASME HOSPITAL   (Belgium)

^d UNIVERSITY OF BONN   (Germany)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CHLORTALIDONE; CLONAZEPAM; DANTROLENE; GABAPENTIN; MEXILETINE; PHENYTOIN; TOPIRAMATE; TRAMADOL; TRICYCLIC ANTIDEPRESSANT AGENT; VENLAFAXINE; VERAPAMIL;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BELGIUM; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; EXON; FAMILY HISTORY; FATIGUE; FEMALE; FLUORESCENCE HISTOCHEMISTRY; HUMAN; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CONTRACTION; MUSCLE CRAMP; MUSCLE DISEASE; MYALGIA; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; PERCUSSION; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RIPPLING MUSCLE DISEASE; SEQUENCE ANALYSIS; TREATMENT FAILURE; WESTERN BLOTTING;

EID: 4344624269     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.028217     Document Type: Article

References (19)

1. Torbergsen T. A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct drom myotonia congenital Thomsen. Acta Neurol Scand 1975;51:225-32.
2. Ricker K, Moxley RT, Rohkamm R. Rippling muscle disease. Arch Neurol 1989;46:405-8.
3. Vorgerd M, Bolz H, Pafzold T, et al. Phenotypic variability in rippling muscle disease. Neurology 1999;52:1453-9.
4. Betz RC, Schoser BGH, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Natl Genet 2001;28:218-19.
5. Kubisch C, Schoser BGH, von Düring M, et al. Homozygous mutations in Caveolin-3 cause a severe form of Rippling Muscle Disease. Ann Neurol 2003;53:512-20.
6. Razani B, Woodman E, Lisanti MP. Caveolae: from cell biology to animal physiology. Pharmacol Rev 2002;54:431-67.
7. Vorgerd M, Ricker K, Ziemssen F, et al. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology 2001;57:2273-7.
8. Fischer D, Schroers A, Blümke I, et al. Consequences of a novel caveolin-3 mutation in a large German family. Ann Neurol 2003;53:233-41.
9. Merlini L, Carbone I, Capanni C, et al. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry 2002;73:65-7.
10. Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998;18:365-8.
11. McNally EM, de Sa Moreira E, Duggan DJ, et al. Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998;7:871-7.
12. Herrmann R, Straub V, Blank M, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000;9:2335-40.
13. Marsuda C, Hayashi YK, Ogawa M, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001;10:1761-6.
14. Figarella-Branger D, Pouget J, Bernard JR, et al. Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. Neurology 2003;61:562-4.
15. Carbone I, Bruno C, Sotgia F, et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 2000;54:1373-6.
16. Tateyama M, Aoki M, Patzold T, et al. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 2002;58:323-5.
17. Yabe I, Kawashima A, Kikuchi S, et al. Caveolin-3 gene mutation in Japanese with rippling muscle disease. Acta Neurol Scand 2003;108:47-51.
18. Sotgia F, Woodman SE, Bonuccelli G, et al. Phenotypic behavior of caveolin-3 (R26Q), a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. Am J Physiol Cell Physiol 2003;285:C1150-60.
19. Carlson BM, Carlson JA, Dedkov EI, et al. Concentration of caveolin-3 at the neuromuscular junction in young and old rat skeletal muscle fibers. J Histochem Cytochem 2003;51:1113-18.