Epsilon-sarcoglycan is a
protein that in humans is encoded by the SGCEgene.[5][6][7]
The SGCE gene encodes the epsilon member of the
sarcoglycan family, transmembrane components of the
dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM].[7]
Zimprich A, Grabowski M, Asmus F, et al. (2001). "Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome". Nat. Genet. 29 (1): 66–9.
doi:
10.1038/ng709.
PMID11528394.
S2CID13509152.
Fanin M, Angelini C (2002). "Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes". Neuropathol. Appl. Neurobiol. 28 (3): 190–9.
doi:
10.1046/j.1365-2990.2002.00389.x.
PMID12060343.
S2CID32274307.
Asmus F, Zimprich A, Tezenas Du Montcel S, et al. (2002). "Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype". Ann. Neurol. 52 (4): 489–92.
doi:
10.1002/ana.10325.
PMID12325078.
S2CID37611994.
Klein C, Liu L, Doheny D, et al. (2002). "Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations". Ann. Neurol. 52 (5): 675–9.
doi:
10.1002/ana.10358.
PMID12402271.
S2CID40452650.
Kock N, Kasten M, Schüle B, et al. (2004). "Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation". Mov. Disord. 19 (2): 231–4.
doi:
10.1002/mds.10635.
PMID14978685.
S2CID7632459.
Nishiyama A, Endo T, Takeda S, Imamura M (2004). "Identification and characterization of epsilon-sarcoglycans in the central nervous system". Brain Res. Mol. Brain Res. 125 (1–2): 1–12.
doi:
10.1016/j.molbrainres.2004.01.012.
PMID15193417.
Asmus F, Schoenian S, Lichtner P, et al. (2005). "Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome". Neurogenetics. 6 (1): 55–6.
doi:
10.1007/s10048-004-0206-z.
PMID15627203.
S2CID10589152.
Epsilon-sarcoglycan is a
protein that in humans is encoded by the SGCEgene.[5][6][7]
The SGCE gene encodes the epsilon member of the
sarcoglycan family, transmembrane components of the
dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM].[7]
Zimprich A, Grabowski M, Asmus F, et al. (2001). "Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome". Nat. Genet. 29 (1): 66–9.
doi:
10.1038/ng709.
PMID11528394.
S2CID13509152.
Fanin M, Angelini C (2002). "Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes". Neuropathol. Appl. Neurobiol. 28 (3): 190–9.
doi:
10.1046/j.1365-2990.2002.00389.x.
PMID12060343.
S2CID32274307.
Asmus F, Zimprich A, Tezenas Du Montcel S, et al. (2002). "Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype". Ann. Neurol. 52 (4): 489–92.
doi:
10.1002/ana.10325.
PMID12325078.
S2CID37611994.
Klein C, Liu L, Doheny D, et al. (2002). "Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations". Ann. Neurol. 52 (5): 675–9.
doi:
10.1002/ana.10358.
PMID12402271.
S2CID40452650.
Kock N, Kasten M, Schüle B, et al. (2004). "Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation". Mov. Disord. 19 (2): 231–4.
doi:
10.1002/mds.10635.
PMID14978685.
S2CID7632459.
Nishiyama A, Endo T, Takeda S, Imamura M (2004). "Identification and characterization of epsilon-sarcoglycans in the central nervous system". Brain Res. Mol. Brain Res. 125 (1–2): 1–12.
doi:
10.1016/j.molbrainres.2004.01.012.
PMID15193417.
Asmus F, Schoenian S, Lichtner P, et al. (2005). "Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome". Neurogenetics. 6 (1): 55–6.
doi:
10.1007/s10048-004-0206-z.
PMID15627203.
S2CID10589152.