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autosomal recessive limb-girdle muscular dystrophy type 2Kautosomal recessive limb-girdle muscular dystrophy type 2Gautosomal recessive limb-girdle muscular dystrophy type 2Lautosomal recessive limb-girdle muscular dystrophy type 2Oautosomal recessive limb-girdle muscular dystrophy type 2Mautosomal recessive limb-girdle muscular dystrophy type 2Pautosomal recessive limb-girdle muscular dystrophy type 2Sautosomal recessive limb-girdle muscular dystrophy type 2Aautosomal recessive limb-girdle muscular dystrophy type 2Iautosomal recessive limb-girdle muscular dystrophy type 2Wautosomal recessive limb-girdle muscular dystrophy type 2Yautosomal recessive limb-girdle muscular dystrophy type 2Xautosomal recessive limb-girdle muscular dystrophy type 2Bautosomal recessive limb-girdle muscular dystrophy type 2Cautosomal recessive limb-girdle muscular dystrophy type 2Dautosomal recessive limb-girdle muscular dystrophy type 2Eautosomal recessive limb-girdle muscular dystrophy type 2Fautosomal recessive limb-girdle muscular dystrophy type 2Hautosomal recessive limb-girdle muscular dystrophy type 2Jautosomal recessive limb-girdle muscular dystrophy type 2Qautosomal recessive limb-girdle muscular dystrophy type 2Rautosomal recessive limb-girdle muscular dystrophy type 2Tautosomal recessive limb-girdle muscular dystrophy type 2Uautosomal recessive limb-girdle muscular dystrophy type 2Nepidermolysis bullosa simplex with muscular dystrophyautosomal recessive limb-girdle muscular dystrophy type 2Zmuscular dystrophy, limb-girdle, type 2z; LGMD2Zautosomal recessive limb-girdle muscular dystrophy type 2Zsarcoglycanopathy
P279
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophyAutosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan geneA gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2pA common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophyLinkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMDEstimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familesAn autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy.A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects.Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section.Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy.Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophyConfirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region[Autosomal recessive limb-girdle muscular dystrophy probably linked to chromosome 15]Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophySpin-lock magnetic resonance imaging of muscle in patients with autosomal recessive limb girdle muscular dystrophySarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophyMagnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy[Autosomal recessive limb-girdle muscular dystrophy]
P921
Q1002195-D053F7F6-CA90-4376-AB17-469AAC3F1314Q1531333-07B3C2AE-9411-426C-AD32-18C0EA87A943Q1531335-40340309-BC8D-4401-8A54-B9CE9166F6D2Q1531337-616A8414-4C43-4974-9DD5-84311B910FDEQ1531338-AE4EFBFD-7BF2-443E-904E-D042B7482282Q15812428-E2E01513-32A6-4E5F-9C07-C59572153AE5Q15812429-68E90225-8C74-44BF-B0CB-B7DFDBD691C4Q17177467-D4FF8AEF-0788-4EBE-90D3-EC85B0575751Q22965446-FA3164EF-1E63-4A07-9162-2B61C7E4D746Q27429767-6B03D1BD-7659-4CBA-81F2-B31CF3DAA221Q27429768-B3B8C34D-F746-4575-B2DA-B93B83B61684Q27429769-2119E6EB-E82A-4909-B321-64C2687FF2B7Q27677697-962A2046-9E5B-463F-A6FE-51606B718937Q27677698-0CAB394A-5AB8-41CA-BBC2-2C44A5D3F329Q27677699-07970D6D-0703-4992-947C-9E6852203998Q27677700-7039DB0B-1A3D-4585-81F1-8B5F9AC8435AQ27677701-869A3546-5A75-4A9E-97E4-9A46850F4E95Q27677704-1FFB3015-1EAF-4168-B269-3D34FDE0A5F6Q27677705-F1EB43FC-FAC1-46D9-9D40-BC03756ACB23Q27677707-8B644E5F-B37A-4CDD-A44C-B73651584BCDQ27677708-F1C45E45-72F9-4C9A-81BE-6F45E0E83B55Q27677713-956DC299-19FB-470E-A333-E8E0B9974132Q27677714-84A00898-D1C6-4CC8-9746-FACC2AC6153CQ27677718-D0A18E10-6021-4C1E-9008-025CA5223ED1Q5382849-D2C1B695-B9A3-4DB1-B357-F3A50AB5CFD7Q53996622-21d3bfca-4cf9-7e56-afd5-50a3d29dd5caQ55785156-3052678A-312B-46B7-A6F3-6F1D83BD4357Q55788365-1966DCA5-98ED-4EAA-9D9C-8F37DCBF0E0EQ7423586-c24742e4-4848-904b-6bae-211eae88dd0f
P279
Q24309219-416F1CCC-7460-4EF2-A231-AB84DC199E5CQ24311859-8C88ACD5-4CB2-4BD4-B2A5-B1F247A9C727Q24539083-AD2C3423-3F73-4D09-9CAE-A43F6FEA4041Q24678868-E2365289-2107-4889-A39A-C8A8A9A47838Q28139875-E4E3C9AB-C011-417E-9297-F9235C86AED8Q28243860-A2987976-BED7-4930-BA08-102072821F51Q28270783-594D4DD6-1A39-4422-A086-9F4C1C736FE0Q28287924-157C74B8-FDB7-4583-8F50-CA79FA1D66F7Q33682904-464FA418-8B7A-4CBD-AE0E-9B99E1CBEE85Q34406665-C7E723D8-9F6F-4DE1-BA5E-54EA9403329FQ34728529-0EC509FA-9C8A-4BFE-BF6A-5B11A4A2B8B1Q37186160-BAEFA5F3-A9C4-4123-9803-1742C58A01ECQ38978151-94A04C5D-89A8-4482-B493-80B50F45F6FBQ42502006-81C3E759-1527-446B-9070-AB1853DB3CA0Q43575655-5E8E6A03-9FF1-46FF-B4D8-1358E0EDA467Q43903579-2C454FFE-5D13-46A7-8B38-0B2B577C8A4CQ44787977-3988C885-B434-43BC-B72D-1BD5B141E3FBQ46238583-F443C4B1-A1BC-4569-8E6B-C803A0E03F64Q48581691-B230C9C6-9CDF-463A-BBB3-8743771CA179Q51061338-A56F7DBA-5F77-4FC9-B1E1-EDDCDB3B135BQ57390158-A745DED1-EE5A-4833-B769-8A520ABEBFC3Q62554898-90DA8C91-DF8C-47CE-8A95-75B54FA47E9FQ71588237-BB6604DB-E77B-4012-AC9B-C458A6740E6DQ72044072-A83DA4C8-96E0-476A-8B77-77CE42FC715BQ73757224-2952A8CC-EECC-4C3F-93A9-0C3BEF82EE8BQ74331659-4DB7DE04-9AC5-49C2-B4D3-C3B4039DDF87Q78086709-564BE043-E320-4C29-905F-621DB0D95405Q85162540-29F1DE4B-1825-4994-A50B-59F19E5D5261
P921
description
Krankheit
@de
limb-girdle muscular dystrophy has material basis in autosomal recessive inheritance
@en
مرض يصيب الإنسان
@ar
name
autosomal recessive limb-girdle muscular dystrophy
@en
distrofia muscular de cinturas autosómica recesiva
@es
dystrophie musculaire des ceintures autosomique récessive
@fr
type
label
autosomal recessive limb-girdle muscular dystrophy
@en
distrofia muscular de cinturas autosómica recesiva
@es
dystrophie musculaire des ceintures autosomique récessive
@fr
altLabel
distrofia muscular de cinturas autosomica recesiva
@es
limb-girdle muscular dystrophy, autosomal recessive
@en
prefLabel
autosomal recessive limb-girdle muscular dystrophy
@en
distrofia muscular de cinturas autosómica recesiva
@es
dystrophie musculaire des ceintures autosomique récessive
@fr
P2293
P486
P1550
P1995
P2892
P31
P4229
P486
P5270
MONDO:0015152
P699
DOID:0110274