Reduced muscle fiber calpain-3

MedGen UID:: 868232
•Concept ID:: C4022624
•: Finding

Synonym:	Reduced muscle fibre calpain-3

HPO:	HP:0030121

Definition

Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced muscle fiber calpain-3

Abnormality of the musculoskeletal system
- Abnormality of the musculature
  - Abnormal skeletal muscle morphology
    - Abnormal muscle fiber morphology
      - Abnormal muscle fiber protein expression
        Abnormal muscle fiber calpain-3
        Reduced muscle fiber calpain-3

Recent clinical studies

Diagnosis

Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.

Toral-Ojeda I, Aldanondo G, Lasa-Elgarresta J, Lasa-Fernández H, Fernández-Torrón R, López de Munain A, Vallejo-Illarramendi A
Expert Rev Mol Med 2016 Apr 8;18:e7. doi: 10.1017/erm.2016.9. PMID: 27055500 Free PMC Article

Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.

Parker KC, Kong SW, Walsh RJ; Bch, Salajegheh M, Moghadaszadeh B, Amato AA, Nazareno R, Lin YY, Krastins B, Sarracino DA, Beggs AH, Pinkus JL, Greenberg SA
Muscle Nerve 2009 Jun;39(6):739-53. doi: 10.1002/mus.21230. PMID: 19291799 Free PMC Article

Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.

Nakamura A, Yoshida K, Ikeda S
Clin Neurol Neurosurg 2004 Mar;106(2):122-8. doi: 10.1016/j.clineuro.2003.10.010. PMID: 15003303

See all (3)

Clinical prediction guides

Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C
J Neuropathol Exp Neurol 2012 Oct;71(10):894-906. doi: 10.1097/NEN.0b013e31826c6f7b. PMID: 22975586

Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.

Kramerova I, Kudryashova E, Ermolova N, Saenz A, Jaka O, López de Munain A, Spencer MJ
Hum Mol Genet 2012 Jul 15;21(14):3193-204. Epub 2012 Apr 14 doi: 10.1093/hmg/dds144. PMID: 22505582 Free PMC Article

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.

Kramerova I, Kudryashova E, Wu B, Ottenheijm C, Granzier H, Spencer MJ
Hum Mol Genet 2008 Nov 1;17(21):3271-80. Epub 2008 Aug 1 doi: 10.1093/hmg/ddn223. PMID: 18676612 Free PMC Article

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Reduced muscle fiber calpain-3

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity