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Limb-Girdle Muscular Dystrophy Type 1C

MedGen UID:
371358
•Concept ID:
C1832567
•
Disease or Syndrome
Synonyms: LGMD1C; Muscular Dystrophy, Limb-Girdle, Type 1C

Definition

A sub-type of limb-girdle muscular dystrophy caused by mutation(s) in the CAV3 gene, encoding caveolin-3. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLimb-Girdle Muscular Dystrophy Type 1C
Follow this link to review classifications for Limb-Girdle Muscular Dystrophy Type 1C in Orphanet.

Recent clinical studies

Diagnosis

Characteristic findings of skeletal muscle MRI in caveolinopathies.
Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K
Neuromuscul Disord 2018 Oct;28(10):857-862. Epub 2018 Jul 31 doi: 10.1016/j.nmd.2018.07.010. PMID: 30174172
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R
Neuromuscul Disord 2016 Aug;26(8):504-10. Epub 2016 May 11 doi: 10.1016/j.nmd.2016.05.006. PMID: 27312022
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.
Arias Gómez M, Alberte-Woodwar M, Arias-Rivas S, Dapena D, Pintos E, Navarro C
Muscle Nerve 2011 Jul;44(1):126-8. Epub 2011 Jun 9 doi: 10.1002/mus.22079. PMID: 21660982

Clinical prediction guides

The caveolin-3 P104L mutation in LGMD-1C patients inhibits non-insulin-stimulated glucose metabolism and growth but promotes myocyte proliferation.
Shang L, Chen T, Xian J, Deng Y, Huang Y, Zhao Q, Liang G, Liang Z, Lian F, Wei H, Huang Q
Cell Biol Int 2019 Jun;43(6):669-677. Epub 2019 May 13 doi: 10.1002/cbin.11144. PMID: 30958599
Characteristic findings of skeletal muscle MRI in caveolinopathies.
Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K
Neuromuscul Disord 2018 Oct;28(10):857-862. Epub 2018 Jul 31 doi: 10.1016/j.nmd.2018.07.010. PMID: 30174172
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
Fee DB, So YT, Barraza C, Figueroa KP, Pulst SM
Muscle Nerve 2004 Sep;30(3):375-8. doi: 10.1002/mus.20092. PMID: 15318349
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M
Ann Neurol 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. PMID: 12666119
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr
Hum Mol Genet 2001 Aug 15;10(17):1761-6. doi: 10.1093/hmg/10.17.1761. PMID: 11532985

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