Disease #02734 (LGMDR3;LGMD2D (dystrophy, muscular, limb-girdle, autosomal recessive, type 3 (LGMD2D)), OMIM:608099)

Official abbreviation LGMDR3;LGMD2D
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 3 (LGMD2D)
OMIM ID 608099
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 19
Phenotype entries for this disease 17
Associated with 1 gene SGCA
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-01-12 20:50:17 +01:00 (CET)


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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00072218 26944168-FamPatV2 PubMed: Liang 2016, Journal: Liang 2016 5-generation family, 5 affecteds (F, 4M), 13 unaffected heterozygous carriers M no Taiwan Taiwan >17y - - - LGMDR3;LGMD2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) SGCA SGCA 1 5 Jamie Zeegers
00072219 26944168-FamPatV1 PubMed: Liang 2016, Journal: Liang 2016 - F no Taiwan Taiwan >19y - - - LGMDR3;LGMD2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), palpitation (HP:0001962), mild respiratory impairment (HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00072220 26944168-FamPatIV2 PubMed: Liang 2016, Journal: Liang 2016 - M no Taiwan Taiwan >47y - - - LGMDR3;LGMD2D proximal muscle weakness (HP:0003701), loss of ambulation (HP:0002540), respiratory impairment (HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00072221 26944168-FamPatV3 PubMed: Liang 2016, Journal: Liang 2016 - M yes Taiwan Taiwan >08y - - - LGMDR3;LGMD2D proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00072223 26944168-FamPatVI6 PubMed: Liang 2016, Journal: Liang 2016 - M yes - Taiwan >03y - - - LGMDR3;LGMD2D no proximal muscle weakness (-HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093) SGCA SGCA 1 1 Jamie Zeegers
00080961 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - LGMDR3;LGMD2D Muscular dystrophy, limb-girdle, type 2D (OMIM:608099) SGCA SGCA 1 1 Daniel Trujillano
00080964 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - LGMDR3;LGMD2D Muscular dystrophy, limb-girdle, type 2D (OMIM:608099) SGCA SGCA 1 1 Daniel Trujillano
00117365 - - - F yes Spain - - - - - LGMDR3;LGMD2D limb girdle muscle weakness (HP:0003325) SGCA SGCA 1 1 Aurelio Hernández-Laín
00117373 - - - M no Spain - - - - - LGMDR3;LGMD2D prominent scapular winging (HP:0003691), pelvic girdle muscle weakness (HP:0003749) SGCA SGCA 2 1 Aurelio Hernández-Laín
00117378 - - - M no Spain - - - - - LGMDR3;LGMD2D pelvic girdle muscle weakness (HP:0003749) SGCA SGCA 1 1 Aurelio Hernández-Laín
00132620 - - - F ? Spain Spaniard ? - Pedigree , MRI - LGMDR3;LGMD2D HP:0003327 HP:0003325 - SGCA 1 3 Lidia Gonzalez-Quereda
00207629 DMD-423 PubMed: Alcantara-Ortigoza 2019 - M ? Mexico Mexican - - - - LGMDR3;LGMD2D - SGCA SGCA 1 1 Miguel Angel Alcántara-Ortigoza
00301616 - - compound heterozygous patient M - Greece - 14y - - - LGMDR3;LGMD2D - SGCA SGCA 2 1 Helen Latsoudis
00387999 Pat111 PubMed: Chakravorty 2020 - F yes India - - - - - LGMDR3;LGMD2D HP:0003701 (proximal muscle weakness); difficulty getting up from ground and climbing stairs, calf hypertrophy; most-affected muscles hip and knee extensors, ankle dorsiflexors SGCA SGCA 1 1 Micaela Carcione
00436662 Fam3PatII1 PubMed: Chun Tran 2023 family, 2 affected (sister/brother) F no Viet Nam Asia - - yes none LGMDR3;LGMD2D - SGCA SGCA 1 2 Nguyen Hoang
00436663 Fam2PatII1 PubMed: Chun Tran 2023 family, 1 affected F no Viet Nam Asia - - yes none LGMDR3;LGMD2D CK level 16,408U/L; proximal muscle atrophy, beginning in lower extremities, weakness muscles shoulder/arms SGCA SGCA 1 1 Nguyen Hoang
00436664 Fam1PatII2 PubMed: Chun Tran 2023 brother M no Viet Nam Asia - - yes none LGMDR3;LGMD2D CK level 16408.3U/L; proximal muscle atrophy, beginning in lower extremities, weakness muscles shoulder/arms, difficulties climbing stairs/standing up/sitting; no lumbar lordosis SGCA SGCA 2 1 Nguyen Hoang
00436665 Fam1PatII1 PubMed: Chun Tran 2023 family, 2 affected (sister/brother) F yes Viet Nam Asia - - yes none LGMDR3;LGMD2D CK level 1,900U/L; weakness muscles shoulder/arms, difficulties climbing stairs/standing up/sitting down; 8y-lumbar lordosis appears SGCA SGCA 2 2 Nguyen Hoang
00468440 patient - 2-generation family,consanguineous parents, two deceased brothers with similar muscle phenotype/cardiac complications M yes Portugal Cape Verde - - - Implantable cardioverter-defibrillator (ICD) LGMDR3;LGMD2D delayed motor milestones, difficulty running/climbing stairs,; progressive limb-girdle muscle weakness, proximal greater than distal; elevated serum CK; severe dilated cardiomyopathy; wheelchair-bound in adulthood SGCA SGCA 1 1 Mariana Costa Taveira
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