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Results: 1 to 20 of 90

1.

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A.

Hum Mutat. 2005 Sep;26(3):279-80.

PMID:
16088906
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.

Fendri K, Kefi M, Hentati F, Amouri R.

Neuromuscul Disord. 2006 May;16(5):316-20. Epub 2006 Apr 17.

PMID:
16616845
[PubMed - indexed for MEDLINE]
4.

Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.

Wong-Kisiel LC, Kuntz NL.

Neuromuscul Disord. 2010 Feb;20(2):122-4. doi: 10.1016/j.nmd.2009.11.005. Epub 2010 Jan 13.

PMID:
20071171
[PubMed - indexed for MEDLINE]
5.

Beta-sarcoglycan gene mutations in Turkey.

Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P.

Acta Myol. 2004 Dec;23(3):154-8.

PMID:
15938573
[PubMed - indexed for MEDLINE]
6.

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.

Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE.

Clin Genet. 2012 Jun;81(6):578-83. doi: 10.1111/j.1399-0004.2011.01681.x. Epub 2011 May 4.

PMID:
21480868
[PubMed - indexed for MEDLINE]
7.

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE.

Am J Med Genet A. 2006 Feb 15;140(4):322-30.

PMID:
16419137
[PubMed - indexed for MEDLINE]
8.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R.

Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.

PMID:
23543484
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Limb-girdle muscular dystrophy due to emerin gene mutations.

Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.

Arch Neurol. 2007 Jul;64(7):1038-41.

PMID:
17620497
[PubMed - indexed for MEDLINE]
10.

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.

McMillan HJ, Carter MT, Jacob PJ, Laffan EE, O'Connor MD, Boycott KM.

Muscle Nerve. 2009 Mar;39(3):396-9. doi: 10.1002/mus.21222.

PMID:
19208398
[PubMed - indexed for MEDLINE]
11.

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

Hackman P, Juvonen V, Sarparanta J, Penttinen M, Aärimaa T, Uusitalo M, Auranen M, Pihko H, Alén R, Junes M, Lönnqvist T, Kalimo H, Udd B.

Muscle Nerve. 2005 Feb;31(2):199-204.

PMID:
15736300
[PubMed - indexed for MEDLINE]
12.

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B.

J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1200-2. doi: 10.1136/jnnp.2009.178434. Epub 2010 Jun 22.

PMID:
20571043
[PubMed - indexed for MEDLINE]
13.
14.

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.

Eur J Hum Genet. 2004 Dec;12(12):1033-40. Erratum in: Eur J Hum Genet. 2005 Feb;13(2):264.

PMID:
15367920
[PubMed - indexed for MEDLINE]
Free Article
15.

Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.

Rosas-Vargas H, Gómez-Díaz B, Ruano-Calderón L, Fernández-Valverde F, Roque-Ramírez B, Portillo-Bobadilla T, Ordoñez-Razo RM, Minauro-Sanmiguel F, Coral-Vázquez R.

Genet Test. 2007 Winter;11(4):391-6. doi: 10.1089/gte.2007.0039.

PMID:
18294055
[PubMed - indexed for MEDLINE]
16.

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT.

Hum Mutat. 2005 Jul;26(1):59.

PMID:
15954112
[PubMed - indexed for MEDLINE]
17.

Coexisting muscular dystrophies and epilepsy in children.

Tsao CY, Mendell JR.

J Child Neurol. 2006 Feb;21(2):148-50.

PMID:
16566880
[PubMed - indexed for MEDLINE]
18.

Beta-sarcoglycanopathy.

Kapoor S, Tatke M, Aggarwal S, Gupta A.

Indian J Pediatr. 2005 Jan;72(1):71-4.

PMID:
15684453
[PubMed - indexed for MEDLINE]
19.

Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.

Hanisch F, Müller CR, Grimm D, Xue L, Traufeller K, Merkenschlager A, Zierz S, Deschauer M.

Clin Neuropathol. 2007 Jul-Aug;26(4):157-63.

PMID:
17702496
[PubMed - indexed for MEDLINE]
20.

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.

Spengos K, Walter MC, Dekomien G, Papadopoulos K, Lochmüller H, Manta P.

Eur J Neurol. 2010 Jun 1;17(6):e41-2. doi: 10.1111/j.1468-1331.2010.03004.x. Epub 2010 Mar 22. No abstract available.

PMID:
20345928
[PubMed - indexed for MEDLINE]

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