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Absent muscle fiber gamma sarcoglycan

MedGen UID:
868244
•Concept ID:
C4022636
•
Finding
Synonym: Absent muscle fibre gamma sarcoglycan
 
HPO: HP:0030109

Definition

Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent muscle fiber gamma sarcoglycan

Recent clinical studies

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: 18537849Free PMC Article

Prognosis

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.
Brunetti B, Bacci B, Abbate JM, Tura G, Paciello O, Vaccaro E, Prisco F, Gandini G, Okonji S, Paola AD, Letko A, Drögemüller C, Jagannathan V, Turba ME, Ogundipe TG, Lorenzini L, Rosati M, Psalla D, Leeb T, Drögemüller M
Genes (Basel) 2023 Aug 18;14(8) doi: 10.3390/genes14081641. PMID: 37628692Free 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

Clinical prediction guides

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.
Brunetti B, Bacci B, Abbate JM, Tura G, Paciello O, Vaccaro E, Prisco F, Gandini G, Okonji S, Paola AD, Letko A, Drögemüller C, Jagannathan V, Turba ME, Ogundipe TG, Lorenzini L, Rosati M, Psalla D, Leeb T, Drögemüller M
Genes (Basel) 2023 Aug 18;14(8) doi: 10.3390/genes14081641. PMID: 37628692Free PMC Article
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: 18537849Free PMC Article
Sarcoglycan immunoreactivity is lacking in infantile hypertrophic pyloric stenosis. A confocal laser scanning microscopic study.
Romeo C, Santoro G, Impellizzeri P, Manganaro A, Cutroneo G, Trimarchi E, Antonuccio P, Anastasi G, Zuccarello B
Pediatr Med Chir 2007 Jan-Feb;29(1):32-7. PMID: 17557508
Telethonin protein expression in neuromuscular disorders.
Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M
Biochim Biophys Acta 2002 Oct 9;1588(1):33-40. doi: 10.1016/s0925-4439(02)00113-8. PMID: 12379311
A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system.
Imamura M, Araishi K, Noguchi S, Ozawa E
Hum Mol Genet 2000 Dec 12;9(20):3091-100. doi: 10.1093/hmg/9.20.3091. PMID: 11115854

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