Disease #05324 (DMD (dystrophy, muscular, Duchenne type (DMD)), OMIM:310200)

Official abbreviation DMD
Name dystrophy, muscular, Duchenne type (DMD)
OMIM ID 310200
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 12823
Phenotype entries for this disease 12381
Associated with 1 gene DMD
Associated tissues -
Disease features -
Remarks -


Individuals

12823 entries on 129 pages. Showing entries 1 - 100.
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00007484 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Arjen Mensenkamp
00007485 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Arjen Mensenkamp
00007486 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Rob B. van der Luijt
00007487 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Ans M.W. van den Ouweland
00007488 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Ans M.W. van den Ouweland
00007489 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Frans BL Hogervorst
00007490 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA1 1 1 Hans Gille
00007491 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Juul Wijnen
00007492 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Juul Wijnen
00007493 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Hans Gille
00007494 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Marjolijn JL Ligtenberg
00007496 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Rien Blok
00007497 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Rien Blok
00007498 - - - - ? Belgium - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Erik Teugels
00007499 - - - - ? Belgium - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA1 1 1 Kathleen Claes
00007500 - - - - ? Netherlands - - - - - cancer, breast, DMD - BRCA1, BRCA2 BRCA2 1 1 Frans BL Hogervorst
00025503 - PubMed: Suminaga 2000 - M - Japan - - - - - DMD - ACTN3 ACTN3 2 87 Johan den Dunnen
00034405 - PubMed: Zhang 2004 - M - - - - - - - AHC, DMD, GKD, MRX;IDX intellectual disability (HP:0001249) DMD, GK, IL1RAPL1, NR0B1 DMD 1 1 Johan den Dunnen
00043857 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - no medication; BiPaP ventilator; no surgery scoliosis/contractures DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043859 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >28y - - no medication; BiPaP ventilator; no scoliosis surgery DMD confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 18000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043860 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - no medication; mechanical ventilator; no scoliosis surgery, surgery contractures DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 9000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043861 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - no medication; no ventilator; no surgery scoliosis/contractures DMD confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043862 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y - - no medication; no ventilator; no surgery scoliosis/contractures DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043863 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - medication creatine; no ventilator; no scoliosis surgery DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 6040; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043864 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y - - no medication; no ventilator; scoliosis surgery DMD confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 20379; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043865 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >15y - - no medication; no ventilator; no scoliosis surgery DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 16000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043870 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y - - medication steroids; no ventilator; DMD confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 19900; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043871 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >8y - - no medication; no ventilator; DMD confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 1600; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043872 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - no medication; no ventilator; DMD confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >20y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043876 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y - - no medication; no surgery scoliosis/contractures; DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 20000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043877 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >13y - - medication steroids DMD confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 33000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043878 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >5y - - no medication DMD confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >5y; no contractures (-HP:0001371); CK level 289; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043925 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - no medication; BiPaP ventilator; no scoliosis surgery, surgery contractures DMD confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043926 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y - - no medication; BiPaP ventilator; no scoliosis surgery, surgery contractures DMD confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 28528; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043927 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y - - medication steroids; BiPaP ventilator; no surgery scoliosis/contractures DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 33000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043928 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y - - no medication; BiPaP ventilator; no surgery scoliosis/contractures DMD confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 5958; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043931 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >40y - - no medication; BiPaP ventilator; DMD contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091); CK level 1383 DMD - - 1 Manuel F. Mas Rodriguez
00043932 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - no medication; BiPaP ventilator; no scoliosis surgery DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 226; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043933 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y - - no medication; BiPaP ventilator; no scoliosis surgery DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043935 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - medication steroids and creatine; mechanical ventilator; surgery contractures DMD no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 28000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043936 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >41y - - no medication; mechanical ventilator; no surgery scoliosis/contractures DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 172; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043938 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y - - no medication; no ventilator; no scoliosis surgery, surgery contractures DMD confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 3618; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043939 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y - - no medication; no ventilator; no surgery scoliosis/contractures DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043940 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - no medication; no ventilator; no surgery scoliosis/contractures DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043941 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - no medication; no ventilator; no surgery contractures DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 35040; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043942 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >30y - - no medication; no ventilator; no surgery contractures DMD no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 286; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043949 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >44y - - medication steroids; no ventilator; no surgery contractures DMD no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 21711; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043950 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y - - no medication; no ventilator; no surgery scoliosis/contractures DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043951 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y - - no medication; no ventilator; no surgery contractures DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 25000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043954 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - no medication; no ventilator; no scoliosis surgery DMD contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 15420 DMD - - 1 Manuel F. Mas Rodriguez
00043955 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - no medication; no ventilator; no scoliosis surgery DMD contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung DMD - - 1 Manuel F. Mas Rodriguez
00043957 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y - - no medication; no ventilator; DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >12y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043958 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >14y - - no medication; no ventilator; DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >14y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043959 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y - - no medication; no ventilator; DMD no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >16y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 2870; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043965 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y - - no medication; respiratory support; no surgery contractures DMD no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 12273; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043966 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - no medication DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >20y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043967 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - no medication DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >18y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043968 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >11y - - medication steroids; no surgery scoliosis/contractures; DMD confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 2790; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043969 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y - - no medication; no surgery scoliosis/contractures; DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 45630; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043970 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >29y - - no medication; no surgery scoliosis/contractures; DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043972 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y - - medication steroids; no scoliosis surgery; DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 7000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043973 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >28y - - no medication; scoliosis surgery; DMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043974 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - no medication DMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >20y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - - 1 Manuel F. Mas Rodriguez
00043979 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y - - no medication; scoliosis surgery; DMD no contractures (-HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 17745 DMD - - 1 Manuel F. Mas Rodriguez
00043982 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - - - - no medication DMD no contractures (-HP:0001371); no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung DMD - - 1 Manuel F. Mas Rodriguez
00074363 - PubMed: Luce 2016 PubMed: Luce 2021 - M no Argentina - - - - - DMD GOT 437U/L; GPT 709U/L; elevated serum CPK (HP:0003236) 12100 U/L DMD DMD 1 1 Florencia Giliberto
00074384 - PubMed: Luce 2016 PubMed: Luce 2021 - M no Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00074385 - - - M no (Argentina) - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00079870 - PubMed: Luce 2016, Journal: Luce2016 PubMed: Luce 2021 - M no Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00081890 - PubMed: Luce 2021 - M - Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00119099 #392 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00119100 #362 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 38.525 UI/L DMD DMD 2 1 Florencia Giliberto
00119101 #307 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD raised CPK 35.000 UI/L DMD DMD 1 1 Florencia Giliberto
00119102 #372 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD raised CPK 17.900 UI/L DMD DMD 1 1 Florencia Giliberto
00119103 #288 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD raised CPK 24.992 UI/L DMD DMD 1 1 Florencia Giliberto
00119104 #435 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00119105 #110 - - F ? Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00119106 #326 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 36.567 UI/L DMD DMD 1 1 Florencia Giliberto
00119107 #394 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00119108 #460 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00119109 #419 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 10.424 UI/L DMD DMD 1 1 Florencia Giliberto
00119110 #258 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 10.676 UI/L DMD DMD 1 1 Florencia Giliberto
00119111 #428 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 8.197 UI/L DMD DMD 1 1 Florencia Giliberto
00119113 #436 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 7.599 UI/L DMD DMD 1 1 Florencia Giliberto
00119114 #227 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 6.680 UI/L DMD DMD 1 1 Florencia Giliberto
00119115 #196 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 20.780 UI/L DMD DMD 1 1 Florencia Giliberto
00119116 #250 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 23.062 UI/L DMD DMD 1 1 Florencia Giliberto
00119117 #393 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD raised CPK 20.003 UI/L DMD DMD 1 1 Florencia Giliberto
00119118 #437 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00121861 #461 (2017) PubMed: Luce 2021 - M - Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00121862 #459 (2017) - - M - Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00121863 #438 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - DMD - DMD DMD 1 1 Florencia Giliberto
00121888 19377476.DMD.11 PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 1 1 Johan den Dunnen
00121889 19377476.DMD.12 PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 1 1 Johan den Dunnen
00121890 19377476.DMD.15 PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 1 1 Johan den Dunnen
00121891 19377476.DMD.13 PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 1 2 Johan den Dunnen
00121892 19377476.DMD.7/8 PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 2 3 Johan den Dunnen
00121893 19377476.DMD.9 PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 1 5 Johan den Dunnen
00121894 - - - M - (Italy) - - - - - DMD - DMD DMD 2 1 Johan den Dunnen
00121895 - - - M - Greece - - - - - DMD - DMD DMD 1 1 Emmanouil Kanavakis
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