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Caveolinopathy

MedGen UID:
433151
Concept ID:
CN043575
Disease or Syndrome
Synonyms: Caveolinopathies
 
Related genes: MYLK2, MYH7, MYH6, CAV3
Orphanet: ORPHA207078

Disease characteristics

Excerpted from the GeneReview: Caveolinopathies
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise . Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations. [from GeneReviews]
Authors:
Claudio Bruno  |  Federica Sotgia  |  Elisabetta Gazzerro, et. al.   view full author information

Term Hierarchy

Recent clinical studies

Etiology

Chen J, Zeng W, Han C, Wu J, Zhang H, Tong X
Neuropathology 2016 Oct;36(5):485-489. Epub 2016 Mar 7 doi: 10.1111/neup.12297. PMID: 26947586
Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B
Acta Neurol Scand 2015 Sep;132(3):185-90. Epub 2015 Jan 28 doi: 10.1111/ane.12369. PMID: 25630502
Wakayama Y
J Biomed Biotechnol 2010;2010:731569. Epub 2010 Mar 21 doi: 10.1155/2010/731569. PMID: 20339523Free PMC Article
Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V
Neuromuscul Disord 2008 Jul;18(7):572-8. Epub 2008 Jun 25 doi: 10.1016/j.nmd.2008.05.003. PMID: 18583131
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP
Hum Mutat 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. PMID: 17994539

Diagnosis

Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A
Neurol Neurochir Pol 2016 Nov - Dec;50(6):468-473. Epub 2016 Jul 9 doi: 10.1016/j.pjnns.2016.06.008. PMID: 27772553
Papadopoulos C, Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P
Neurologist 2015 Jul;20(1):8-12. doi: 10.1097/NRL.0000000000000036. PMID: 26185955
Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G
Neuromuscul Disord 2012 Jun;22(6):534-40. Epub 2012 Jan 14 doi: 10.1016/j.nmd.2011.12.001. PMID: 22245016Free PMC Article
Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V
Neuromuscul Disord 2008 Jul;18(7):572-8. Epub 2008 Jun 25 doi: 10.1016/j.nmd.2008.05.003. PMID: 18583131
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C
Hum Mutat 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. PMID: 15580566

Therapy

Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B
Acta Neurol Scand 2015 Sep;132(3):185-90. Epub 2015 Jan 28 doi: 10.1111/ane.12369. PMID: 25630502

Prognosis

Fanin M, Tasca E, Nascimbeni AC, Angelini C
J Neuropathol Exp Neurol 2009 Apr;68(4):383-90. doi: 10.1097/NEN.0b013e31819cd612. PMID: 19287313
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP
Hum Mutat 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. PMID: 17994539

Clinical prediction guides

Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G
Neuromuscul Disord 2012 Jun;22(6):534-40. Epub 2012 Jan 14 doi: 10.1016/j.nmd.2011.12.001. PMID: 22245016Free PMC Article
Brauers E, Dreier A, Roos A, Wormland B, Weis J, Krüttgen A
Am J Pathol 2010 Jul;177(1):261-70. Epub 2010 May 14 doi: 10.2353/ajpath.2010.090741. PMID: 20472890Free PMC Article
Wakayama Y
J Biomed Biotechnol 2010;2010:731569. Epub 2010 Mar 21 doi: 10.1155/2010/731569. PMID: 20339523Free PMC Article
Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W
J Child Neurol 2002 Jul;17(7):483-90. doi: 10.1177/088307380201700703. PMID: 12269726

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