Disease #05324

Official abbreviation DMD
Name dystrophy, muscular, Duchenne type (DMD)
OMIM ID 310200
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 10362
Phenotype entries for this disease 9945
Associated with 1 gene DMD
Associated tissues -
Disease features -
Remarks -


Individuals

10362 entries on 104 pages. Showing entries 1 - 100.
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00007484 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Arjen Mensenkamp
00007485 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Arjen Mensenkamp
00007486 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Rob B. van der Luijt
00007487 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Ans M.W. van den Ouweland
00007488 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Ans M.W. van den Ouweland
00007489 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Frans BL Hogervorst
00007490 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA1 1 1 Hans Gille
00007491 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Juul Wijnen
00007492 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Juul Wijnen
00007493 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Hans Gille
00007494 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Marjolijn JL Ligtenberg
00007496 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Rien Blok
00007497 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Rien Blok
00007498 - - - - ? Belgium - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Erik Teugels
00007499 - - - - ? Belgium - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA1 1 1 Kathleen Claes
00007500 - - - - ? Netherlands - - - - - DMD, cancer, breast - BRCA1, BRCA2 BRCA2 1 1 Frans BL Hogervorst
00025503 - PubMed: Suminaga 2000 - M - Japan - - 0 - - DMD - ACTN3 ACTN3 2 87 Johan den Dunnen
00034405 - PubMed: Zhang 2004 - M - - - - 0 - - 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 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043859 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >28y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043860 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043861 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043862 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043863 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043864 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043865 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >15y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043870 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043871 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >8y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043872 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043876 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043877 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >13y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043878 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >5y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043925 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043926 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043927 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043928 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043931 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >40y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043932 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043933 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043935 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043936 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >41y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043938 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043939 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043940 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043941 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043942 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >30y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043949 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >44y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043950 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043951 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043954 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043955 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043957 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043958 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >14y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043959 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043965 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043966 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043967 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043968 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >11y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043969 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043970 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >29y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043972 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043973 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >28y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043974 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043979 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00043982 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - - 0 - 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 - 0 1 Manuel F. Mas Rodriguez
00074363 27206868-Pat PubMed: Luce 2016 - M no Argentina - - 0 - - DMD GOT 437U/L; GPT 709U/L; elevated serum CPK (HP:0003236) 12100 U/L DMD DMD 1 1 Florencia Giliberto
00074384 27206868-Pat PubMed: Luce 2016 - M no Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00079870 27206868-Pat137 PubMed: Luce 2016, Journal: Luce2016 - M no Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00119099 #292 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00119100 #392 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 38.525 UI/L DMD DMD 2 1 Florencia Giliberto
00119101 #362 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD raised CPK 35.000 UI/L DMD DMD 1 1 Florencia Giliberto
00119102 #307 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD raised CPK 17.900 UI/L DMD DMD 1 1 Florencia Giliberto
00119103 #372 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD raised CPK 24.992 UI/L DMD DMD 1 1 Florencia Giliberto
00119104 #288 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00119105 - - - F ? Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00119106 #435 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 36.567 UI/L DMD DMD 1 1 Florencia Giliberto
00119107 #326 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00119108 #394 PubMed: Luce 2018 - M ? Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00119109 #460 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 10.424 UI/L DMD DMD 1 1 Florencia Giliberto
00119110 #419 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 10.676 UI/L DMD DMD 1 1 Florencia Giliberto
00119111 #258 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 8.197 UI/L DMD DMD 1 1 Florencia Giliberto
00119113 #436 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 7.599 UI/L DMD DMD 1 1 Florencia Giliberto
00119114 #420 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 6.680 UI/L DMD DMD 1 1 Florencia Giliberto
00119115 #196 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 20.780 UI/L DMD DMD 1 1 Florencia Giliberto
00119116 #250 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 23.062 UI/L DMD DMD 1 1 Florencia Giliberto
00119117 #393 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD raised CPK 20.003 UI/L DMD DMD 1 1 Florencia Giliberto
00119118 #437 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00121861 #461 - - M - Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00121862 #462 - - M - Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00121863 #438 PubMed: Luce 2018 - M - Argentina - - 0 - - DMD - DMD DMD 1 1 Florencia Giliberto
00121888 19377476.DMD.11 PubMed: Tarpey 2009 - M - - - - 0 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 - - - - 0 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 - - - - 0 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 - - - - 0 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 - - - - 0 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 - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - DMD - DMD DMD 1 5 Johan den Dunnen
00121894 - - - M - (Italy) - - 0 - - DMD - DMD DMD 2 1 Johan den Dunnen
00121895 - - - M - Greece - - 0 - - DMD - DMD DMD 1 1 Emmanouil Kanavakis
00121896 - - - M - Greece - - 0 - - DMD - DMD DMD 1 1 Emmanouil Kanavakis
00121897 - - - M - Greece - - 0 - - DMD - DMD DMD 1 1 Emmanouil Kanavakis
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