Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
Traverso
M
M
Bruno
C
C
Broccolini
A
A
Sotgia
F
F
Donati
M A
MA
Assereto
S
S
Gazzerro
E
E
Lo Monaco
M
M
Modoni
A
A
D'Amico
A
A
Gasperini
S
S
Ricci
E
E
Zara
F
F
Lisanti
M
M
Minetti
C
C
D000328:Adult; D001706:Biopsy; D051244:Caveolin 3 / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D009119:Muscle Contraction / Q000235:genetics; D009120:Muscle Cramp / Q000175:diagnosis / Q000235:genetics*; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018045:Receptors, Oxytocin / Q000235:genetics
D051244:Caveolin 3; D018045:Receptors, Oxytocin; D003402:Creatine Kinase