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Sarcoglycanopathy

MedGen UID:: 424705
•Concept ID:: C2936331
•: Disease or Syndrome

Synonym:	Sarcoglycanopathies

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SGCG, SGCA

Monarch Initiative:	MONDO:0016140
Orphanet:	ORPHA207052

Definition

Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLimb-girdle muscular dystrophy
- CROGVAutosomal recessive limb-girdle muscular dystrophy
- CROGVMuscular dystrophy, limb-girdle, autosomal dominant

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the musculature of the limbs
    - Limb-girdle muscle atrophy
      - Limb-girdle muscular dystrophy
        Autosomal recessive limb-girdle muscular dystrophy
        Sarcoglycanopathy
        Autosomal recessive limb-girdle muscular dystrophy type 2C
        Autosomal recessive limb-girdle muscular dystrophy type 2D
        Qualitative or quantitative defects of beta-sarcoglycan
        Autosomal recessive limb-girdle muscular dystrophy type 2E
        Qualitative or quantitative defects of delta-sarcoglycan
        Autosomal recessive limb-girdle muscular dystrophy type 2F

Professional guidelines

PubMed

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.

Alhammad RM, Alrehaili ML, Albulaihe HM, Aljereish SS, Alanazy MH
BMC Neurol 2024 Sep 4;24(1):312. doi: 10.1186/s12883-024-03838-2. PMID: 39232665 Free PMC Article

Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.

Carson L, Merrick D
Ir J Med Sci 2022 Dec;191(6):2743-2750. Epub 2022 Jan 18 doi: 10.1007/s11845-021-02855-1. PMID: 35040091

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta A, Carvalho E, da-Cunha-Júnior AL, Paim JF, Navarro MM, Valicek J, Menezes MM, Nunes SV, Xavier Neto R, Takata RI, Vargas AP
Arq Neuropsiquiatr 2014 Sep;72(9):721-34. doi: 10.1590/0004-282x20140110. PMID: 25252238

See all (5)

Recent clinical studies

Etiology

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I
Clin Genet 2019 Aug;96(2):126-133. Epub 2019 May 6 doi: 10.1111/cge.13544. PMID: 30919934

An update on diagnostic options and considerations in limb-girdle dystrophies.

Angelini C, Giaretta L, Marozzo R
Expert Rev Neurother 2018 Sep;18(9):693-703. Epub 2018 Aug 21 doi: 10.1080/14737175.2018.1508997. PMID: 30084281

Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.

Fayssoil A, Nardi O, Annane D, Orlikowski D
Acta Neurol Belg 2014 Dec;114(4):257-9. Epub 2014 Jan 25 doi: 10.1007/s13760-013-0276-5. PMID: 24464767

Beta-sarcoglycanopathy.

Kapoor S, Tatke M, Aggarwal S, Gupta A
Indian J Pediatr 2005 Jan;72(1):71-4. doi: 10.1007/BF02760585. PMID: 15684453

Gamma-sarcoglycanopathy.

Gulati S, Leekha S, Sharma MC, Kalra V
Indian Pediatr 2003 Nov;40(11):1077-81. PMID: 14660840

See all (53)

Diagnosis

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC
Neuromuscul Disord 2009 Feb;19(2):167-71. Epub 2009 Jan 23 doi: 10.1016/j.nmd.2008.11.010. PMID: 19167890

Beta-sarcoglycanopathy.

Kapoor S, Tatke M, Aggarwal S, Gupta A
Indian J Pediatr 2005 Jan;72(1):71-4. doi: 10.1007/BF02760585. PMID: 15684453

Gamma-sarcoglycanopathy.

Gulati S, Leekha S, Sharma MC, Kalra V
Indian Pediatr 2003 Nov;40(11):1077-81. PMID: 14660840

The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.

Gordon ES, Hoffman EP
Curr Opin Neurol 2001 Oct;14(5):567-73. doi: 10.1097/00019052-200110000-00004. PMID: 11562567

See all (72)

Therapy

P2X7 purinoceptor as a therapeutic target in muscular dystrophies.

Górecki DC
Curr Opin Pharmacol 2019 Aug;47:40-45. Epub 2019 Mar 20 doi: 10.1016/j.coph.2019.02.003. PMID: 30901735

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.

Maruyama R, Yokota T
Methods Mol Biol 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5. PMID: 30171536

Designing Effective Antisense Oligonucleotides for Exon Skipping.

Shimo T, Maruyama R, Yokota T
Methods Mol Biol 2018;1687:143-155. doi: 10.1007/978-1-4939-7374-3_10. PMID: 29067661

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

Herson S, Hentati F, Rigolet A, Behin A, Romero NB, Leturcq F, Laforêt P, Maisonobe T, Amouri R, Haddad H, Audit M, Montus M, Masurier C, Gjata B, Georger C, Cheraï M, Carlier P, Hogrel JY, Herson A, Allenbach Y, Lemoine FM, Klatzmann D, Sweeney HL, Mulligan RC, Eymard B, Caizergues D, Voït T, Benveniste O
Brain 2012 Feb;135(Pt 2):483-92. Epub 2012 Jan 11 doi: 10.1093/brain/awr342. PMID: 22240777

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC
Neuromuscul Disord 2009 Feb;19(2):167-71. Epub 2009 Jan 23 doi: 10.1016/j.nmd.2008.11.010. PMID: 19167890

See all (5)

Prognosis

Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.

Fayssoil A, Nardi O, Annane D, Orlikowski D
Acta Neurol Belg 2014 Dec;114(4):257-9. Epub 2014 Jan 25 doi: 10.1007/s13760-013-0276-5. PMID: 24464767

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family.

Rivas E, Teijeira S, dos Santos MR, Porrit I, Leturcq F, Fernandez JM, Navarro C
Acta Myol 2004 Dec;23(3):159-62. PMID: 15938574

Gamma-sarcoglycanopathy.

Gulati S, Leekha S, Sharma MC, Kalra V
Indian Pediatr 2003 Nov;40(11):1077-81. PMID: 14660840

Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN
Neuromuscul Disord 2002 Mar;12(3):273-80. doi: 10.1016/s0960-8966(01)00276-0. PMID: 11801399

The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.

Gordon ES, Hoffman EP
Curr Opin Neurol 2001 Oct;14(5):567-73. doi: 10.1097/00019052-200110000-00004. PMID: 11562567

See all (38)

Clinical prediction guides

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

Xie Z, Liu C, Yu H, Xie Z, Sun C, Zhu Y, Hu X, Bai L, Wei L, Sun P, Lu Y, Lu Y, Zhao Y, Zhang W, Wang Z, Meng L, Yuan Y
Orphanet J Rare Dis 2024 Mar 14;19(1):123. doi: 10.1186/s13023-024-03128-7. PMID: 38486238 Free PMC Article

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J
Brain 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. PMID: 34515763 Free PMC Article

Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.

Carotti M, Scano M, Fancello I, Richard I, Risato G, Bensalah M, Soardi M, Sandonà D
Int J Mol Sci 2020 Mar 6;21(5) doi: 10.3390/ijms21051813. PMID: 32155735 Free PMC Article

Fatigue in muscular dystrophies.

Angelini C, Tasca E
Neuromuscul Disord 2012 Dec;22 Suppl 3(3-3):S214-20. doi: 10.1016/j.nmd.2012.10.010. PMID: 23182642 Free PMC Article

Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN
Neuromuscul Disord 2002 Mar;12(3):273-80. doi: 10.1016/s0960-8966(01)00276-0. PMID: 11801399

See all (42)

Recent systematic reviews

Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.

Carson L, Merrick D
Ir J Med Sci 2022 Dec;191(6):2743-2750. Epub 2022 Jan 18 doi: 10.1007/s11845-021-02855-1. PMID: 35040091

See all (1)

MedGen

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Sarcoglycanopathy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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