Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (17.5%) |
28807458 |
Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association. Ibarretxe D, Pelleja J, Ortiz N, Masana L. J Clin Lipidol. 2017;11(5):1280-1283. |
Insulin resistance Myopathy | ||
CAV3 | ||
Caveolin 3 Dyslipidemias Homo sapiens Male Middle Aged Missense Mutation Myopathy | ||
1 (17.5%) |
23798914 (3678143) |
Elevated serum aminotransferases secondary to rippling muscle disease. Nalankilli K, Lubel J. Case Rep Gastroenterol. 2013;7(2):234-9. |
Elevated serum creatine kinase Necrotizing myopathy | ||
1 (17.5%) |
22581547 |
Myotonia associated with caveolin-3 mutation. Milone M, McEvoy KM, Sorenson EJ, Daube JR. Muscle Nerve. 2012;45(6):897-900. |
Cardiomyopathy Myotonia | ||
CAV3 | ||
p|SUB|V|57|M;RS#:116840795 rs116840795 | ||
Adult Caveolin 3 Electromyography Genetic Predisposition to Disease Homo sapiens Male | ||
1 (17.5%) |
22549359 |
Electrically active immune-mediated rippling muscle disease preceding breast cancer. Liewluck T, Goodman BP, Milone M. Neurologist. 2012;18(3):155-8. |
Muscle stiffness | ||
CAV3 | ||
Antineoplastic Agents Caveolin 3 Electricity Electromyography Females Homo sapiens Immunoglobulins Myopathy Neurologic Examination Nicotinic Receptors | ||
1 (17.5%) |
22245016 (3359497) |
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. Ricci G, Scionti I, Ali G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G. Neuromuscul Disord. 2012;22(6):534-40. |
Myopathy | ||
CAV3 FSHMD1A | ||
p|SUB|T|78|M;RS#:72546668 rs72546668 rs77331749 | ||
Alleles Caveolin 3 Heterozygote Homo sapiens Male Middle Aged Muscular Dystrophy, Facioscapulohumeral Myopathy Phenotype | ||
1 (17.5%) |
21404291 |
Rippling is not always electrically silent in rippling muscle disease. Maki T, Matsumoto R, Kohara N, Kondo T, Son I, Mezaki T, Nishino I, Ikeda A, Takahashi R. Muscle Nerve. 2011;43(4):601-5. |
Myopathy | ||
rs116840778 rs121909278 | ||
Adult Electromyography Females Homo sapiens Male Middle Aged Myopathy | ||
1 (17.5%) |
19697367 |
Rippling muscle disease: variable phenotype in a family with five afflicted members. Jacobi C, Ruscheweyh R, Vorgerd M, Weber MA, Storch-Hagenlocher B, Meinck HM. Muscle Nerve. 2010;41(1):128-32. |
Muscle weakness | ||
CAV3 | ||
c|SUB|A|92|T rs28936686 | ||
Adult Biopsy Caveolin 3 DNA Mutational Analysis Differential Diagnosis Electromyography Evoked Potentials, Motor Females Homo sapiens Magnetic Resonance Imaging Male Middle Aged Muscle Contraction Mutation Myopathy Phenotype | ||
1 (17.5%) |
17524427 |
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. Bae JS, Ki CS, Kim JW, Suh YL, Park MS, Kim BJ, Kim SJ. J Neurol Sci. 2007;260(1-2):275-8. |
Myopathy | ||
c|DEL|307_312|GTGGTG;RS#:199476338 p|DEL|103,104|F;RS#:199476338 rs199476338 | ||
Adult Asians Caveolin 3 DNA Mutational Analysis Electromyography Females Gene Deletion Genetic Markers Genetic Predisposition to Disease Genotype Homo sapiens Korea Male Middle Aged Mutation Myopathy Open Reading Frames | ||
1 (17.5%) |
17405141 |
A novel missense mutation in the caveolin-3 gene in rippling muscle disease. Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC. Muscle Nerve. 2007;36(2):258-60. |
Myopathy | ||
CAV3 | ||
c|SUB|A|140|C;RS#:199476327 rs199476327 | ||
Caveolin 3 DNA Mutational Analysis Dystrophin Exons Females Homo sapiens Missense Mutation Myopathy | ||
1 (17.5%) |
12807393 |
Caveolin-3 gene mutation in Japanese with rippling muscle disease. Yabe I, Kawashima A, Kikuchi S, Higashi T, Fukazawa T, Hamada T, Sasaki H, Tashiro K. Acta Neurol Scand. 2003;108(1):47-51. |
Muscle weakness | ||
CAV3 | ||
p|SUB|R|26|Q rs116840778 rs121909278 | ||
Adult Caveolin 3 Caveolins Child Child, Preschool Females Genetic Diseases, Inborn Homo sapiens Japan Male Middle Aged Muscle Contraction Mutation Myopathy |
Total: 0
HPO ID | Term | Frequency |
---|
Total: 10
HPO ID | Term | # of case reports |
---|---|---|
HP:0003198 | Myopathy | 5 |
HP:0003719 | Muscle mounding | 3 |
HP:0001638 | Cardiomyopathy | 2 |
HP:0000565 | Esotropia | 1 |
HP:0001324 | Muscle weakness | 1 |
HP:0003124 | Hypercholesterolemia | 1 |
HP:0003236 | Elevated serum creatine kinase | 1 |
HP:0003552 | Muscle stiffness | 1 |
HP:0003756 | Skeletal myopathy | 1 |
HP:0040083 | Toe walking | 1 |