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Reduced muscle fiber alpha sarcoglycan

MedGen UID:: 868251
•Concept ID:: C4022643
•: Finding

Synonym:	Reduced muscle fibre alpha sarcoglycan

HPO:	HP:0030102

Definition

A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced muscle fiber alpha sarcoglycan

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 alpha sarcoglycan
        Reduced muscle fiber alpha sarcoglycan

Recent clinical studies

Etiology

AAV-mediated gene transfer to skeletal muscle.

Herzog RW
Methods Mol Biol 2004;246:179-94. doi: 10.1385/1-59259-650-9:179. PMID: 14970592

Partial loss of NADPH-diaphorase/nitric oxide synthase-complex in amyotrophic lateral sclerosis and human type-II myofiber atrophy.

Schoser BG, Lück G, Blottner D
Neurosci Lett 1997 Aug 15;231(3):163-6. doi: 10.1016/s0304-3940(97)00554-5. PMID: 9300647

See all (2)

Diagnosis

Costameric proteins in human skeletal muscle during muscular inactivity.

Anastasi G, Cutroneo G, Santoro G, Arco A, Rizzo G, Bramanti P, Rinaldi C, Sidoti A, Amato A, Favaloro A
J Anat 2008 Sep;213(3):284-95. Epub 2008 Jun 5 doi: 10.1111/j.1469-7580.2008.00921.x. PMID: 18537849 Free PMC Article

Integrins, muscle agrin and sarcoglycans during muscular inactivity conditions: an immunohistochemical study.

Anastasi G, Cutroneo G, Santoro G, Arco A, Rizzo G, Trommino C, Bramanti P, Soscia L, Favaloro A
Eur J Histochem 2006 Oct-Dec;50(4):327-36. PMID: 17213042

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)

Therapy

AAV-mediated gene transfer to skeletal muscle.

Herzog RW
Methods Mol Biol 2004;246:179-94. doi: 10.1385/1-59259-650-9:179. PMID: 14970592

Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy.

Sewry CA, Matsumura K, Campbell KP, Dubowitz V
Neuromuscul Disord 1994 Sep-Nov;4(5-6):401-9. doi: 10.1016/0960-8966(94)90079-5. PMID: 7881285

See all (2)

Prognosis

Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.

Burkin DJ, Wallace GQ, Nicol KJ, Kaufman DJ, Kaufman SJ
J Cell Biol 2001 Mar 19;152(6):1207-18. doi: 10.1083/jcb.152.6.1207. PMID: 11257121 Free PMC Article

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG
Neuromuscul Disord 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. PMID: 10714584

Adult onset reducing body myopathy.

Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF
Neuromuscul Disord 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. PMID: 10619716

See all (3)

Clinical prediction guides

Alpha sarcoglycan is required for FGF-dependent myogenic progenitor cell proliferation in vitro and in vivo.

Cassano M, Dellavalle A, Tedesco FS, Quattrocelli M, Crippa S, Ronzoni F, Salvade A, Berardi E, Torrente Y, Cossu G, Sampaolesi M
Development 2011 Oct;138(20):4523-33. Epub 2011 Sep 8 doi: 10.1242/dev.070706. PMID: 21903674

Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.

Assereto S, Mastrototaro M, Stringara S, Gazzerro E, Broda P, Nicchia GP, Svelto M, Bruno C, Nigro V, Lisanti MP, Frigeri A, Minetti C
Cell Cycle 2008 Jul 15;7(14):2199-207. Epub 2008 May 12 doi: 10.4161/cc.7.14.6272. PMID: 18641458

Costameric proteins in human skeletal muscle during muscular inactivity.

Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.

Burkin DJ, Wallace GQ, Nicol KJ, Kaufman DJ, Kaufman SJ
J Cell Biol 2001 Mar 19;152(6):1207-18. doi: 10.1083/jcb.152.6.1207. PMID: 11257121 Free PMC Article

Adult onset reducing body myopathy.

Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF
Neuromuscul Disord 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. PMID: 10619716

See all (7)

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Reduced muscle fiber alpha sarcoglycan

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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