Autosomal recessive rippling muscle disease with homozygous CAV3 mutations

Annals of Neurology

Volumn 57, Issue 2, 2005, Pages 303-304

  Kubisch, Christian ^a   Ketelsen, Uwe Peter ^b   Goebel, Ingrid ^a   Omran, Heymut ^b  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 3; CREATINE KINASE;

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GERMANY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LETTER; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CONTRACTION; MUSCLE DISEASE; MUSCLE STRENGTH; MYALGIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; CAVEOLIN 3; CAVEOLINS; CHILD; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 13144306058     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20350     Document Type: Letter

References (5)

1. Kubisch C, Schoser BG, von During M, et al. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol 2003;53:512-520.
2. Torbergsen T. Rippling muscle disease: a review. Muscle Nerve 2002;11(suppl):S103-S107.
3. Betz RC, Schoser BG, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001;28:218-219.
4. Vorgerd M, Bolz H, Patzold T, et al. Phenotypic variability in rippling muscle disease. Neurology 1999;52:1453-1459.
5. Koul RL, Chand RP, Chacko A, et al. Severe autosomal recessive rippling muscle disease. Muscle Nerve 2001;24:1542-1547.