Disease #05320

Official abbreviation BMD
Name dystrophy, muscular, Becker type (BMD)
OMIM ID 300376
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2181
Phenotype entries for this disease 2112
Associated with 1 gene DMD
Associated tissues -
Disease features -
Remarks -


Individuals

2181 entries on 22 pages. Showing entries 1 - 100.
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00025504 - PubMed: Suminaga 2000 - M - Japan - - 0 - - BMD - ACTN3 ACTN3 2 32 Johan den Dunnen
00043858 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >27y 0 - medication creatine; BiPaP ventilator; no surgery contractures BMD confirmatory test DNA/muscle biopsy; no 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
00043869 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - no medication; no ventilator; no surgery contractures BMD confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >20y; contractures (HP:0001371); CK level 20000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043875 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >30y 0 - no medication; no scoliosis surgery; BMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 5970; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043929 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >40y 0 - no medication; BiPaP ventilator; no surgery scoliosis/contractures BMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 880; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043930 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >39y 0 - no medication; BiPaP ventilator; no surgery scoliosis/contractures BMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 15-39y; contractures (HP:0001371); CK level >1000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043934 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >38y 0 - no medication; BiPaP ventilator; no scoliosis surgery BMD scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 1700; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043937 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >44y 0 - mechanical ventilator; no scoliosis surgery; BMD scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >44y; no contractures (-HP:0001371); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043943 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >31y 0 - medication creatine; no ventilator; no surgery contractures BMD no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 15-31y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043944 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >45y 0 - medication creatine; no ventilator; no surgery contractures BMD no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >45y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043945 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >51y 0 - no medication; no ventilator; no surgery scoliosis/contractures BMD scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >51y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043946 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >57y 0 - no medication; no ventilator; no surgery contractures BMD no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 15-57y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043947 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >32y 0 - medication steroids; no ventilator; no surgery scoliosis/contractures BMD contractures (HP:0001371); 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 2162 DMD - 0 1 Manuel F. Mas Rodriguez
00043952 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - medication steroids; no ventilator; no surgery scoliosis/contractures BMD confirmatory test muscle biopsy; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >18y; contractures (HP:0001371); CK level 4687; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043953 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >15y 0 - no medication; no ventilator; no surgery scoliosis/contractures BMD scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >15y; contractures (HP:0001371); CK level 11000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043956 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y 0 - no medication; no ventilator; BMD contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >25y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung DMD - 0 1 Manuel F. Mas Rodriguez
00043960 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication; no ventilator; BMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >19y; 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
00043961 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >14y 0 - no medication; no ventilator; BMD confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >14y; no contractures (-HP:0001371); CK level 13000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043962 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication; no ventilator; BMD no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >19y; no contractures (-HP:0001371); CK level 232; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043964 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >72y 0 - no medication; no ventilator; BMD no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >72y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 63 DMD - 0 1 Manuel F. Mas Rodriguez
00043971 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y 0 - no medication; no surgery scoliosis/contractures; BMD scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >16y; contractures (HP:0001371); CK level 3969; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043975 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y 0 - no medication; no scoliosis surgery; BMD scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >12y; no contractures (-HP:0001371); CK level 6982; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043976 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - no medication; no scoliosis surgery; BMD confirmatory test muscle biopsy; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >20y; no contractures (-HP:0001371); CK level 10185; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043977 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y 0 - no medication BMD no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >23y; 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
00043978 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y 0 - no medication BMD no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >16y; no contractures (-HP:0001371); CK level 3442; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043980 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication BMD no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >19y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 133 DMD - 0 1 Manuel F. Mas Rodriguez
00043981 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication BMD no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >19y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung DMD - 0 1 Manuel F. Mas Rodriguez
00074390 - PubMed: Gualandi 2006 - M - (United Kingdom (Great Britain));(Italy) - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00119112 #428 PubMed: Luce 2018 - M - Argentina - - 0 - - BMD raised CPK 12.330 UI/L DMD DMD 1 1 Florencia Giliberto
00119119 #398 PubMed: Luce 2018 - M - Argentina - - 0 - - BMD raised CPK 26.000 UI/L DMD DMD 1 1 Florencia Giliberto
00121938 - PubMed: Love - - - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00121993 - PubMed: Gardner, PubMed: Roberts, {OMIM300377:0054} uncle of 7668256-11a M - United Kingdom (Great Britain) - - 0 - - BMD CPK 800; loss ability to walk (HP:0006957) 21y DMD DMD 1 1 Emma Ashton
00122028 - PubMed: Nigro - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122042 - PubMed: Lenk acc. to Roberts, {OMIM300377:0035} - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122043 - PubMed: M¸ller acc. to Roberts, {OMIM300377:0033} - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122045 - PubMed: Roberts, {OMIM300377:0027} - M - - - - 0 - - BMD - DMD DMD 1 1 Emma Ashton
00122078 - PubMed: Hagiwara 1994, PubMed: Takeshima 2010, {OMIM300377:0042} - M - Japan - - 0 - - BMD - DMD DMD 1 1 Masafumi Matsuo
00122083 - PubMed: Lenk, {OMIM300377:0070} - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122090 - PubMed: Wilton, PubMed: Laing, {OMIM300377:0018} affected uncle and nephew M - - - - 0 - - BMD - DMD DMD 1 2 Johan den Dunnen
00122091 - PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, family with 4 affected males M - Italy - - 0 - - BMD - DMD DMD 1 4 Johan den Dunnen
00122106 - PubMed: Prior - M - United States - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122107 - PubMed: Bartolo - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122119 - PubMed: Barbieri - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122122 - PubMed: Barbieri - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122124 - PubMed: Patria 1996, PubMed: Takeshima 2010 - M - Japan - - 0 - - BMD elevated serum CPK (HP:0003236) 10820 DMD DMD 1 1 Masafumi Matsuo
00122126 - PubMed: Roest - M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122156 - PubMed: Sitnik change in healthy relatives BMD patient M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122157 - PubMed: Sitnik - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122162 - PubMed: Shiga, PubMed: Takeshima 2010, {OMIM300377:0074} - M - Japan - - 0 - - BMD - DMD DMD 1 1 Masafumi Matsuo
00122164 - PubMed: Melis 1998 - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122233 10196701-PatD320 PubMed: Kekou 1999 - M - Greece - - 0 - - BMD 13y-CPK 7000 (IU/L), no muscle biopsy, no mental retardation (-HP:0001249) DMD DMD 1 1 Kyriaki Kekou
00122235 - PubMed: Smith 1999 - M - Australia - - 0 - - BMD elevated serum CPK (HP:0003236) 6860 DMD DMD 1 1 Sarah Lang
00122270 - PubMed: Fajkusova, PubMed: Sedlackova 2009 - M - Czech Republic - - 0 - - BMD - DMD DMD 1 1 Jana Sedlackova
00122369 - PubMed: Nobile - - - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122390 - PubMed: Feng family with seven affecteds M - United States African-American 11y 0 - - BMD - DMD DMD 1 7 Johan den Dunnen
00122401 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122404 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122405 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122406 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122407 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122409 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122410 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122411 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122412 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122413 - PubMed: Toffolatti - M - Italy - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122415 - PubMed: Yagi, {OMIM300377:0083} - M - - - - 0 - - BMD no muscle pathology; elevated serum CPK (HP:0003236) 2800 DMD DMD 1 1 Johan den Dunnen
00122445 - PubMed: Flanigan, PubMed: Flanigan 2009 no pathogenic change found M - United States - - 0 - - BMD - DMD DMD 1 1 Kevin Flanigan
00122446 - PubMed: Flanigan, PubMed: Flanigan 2009 three affecteds M - United States - - 0 - - BMD - DMD DMD 1 3 Kevin Flanigan
00122447 - PubMed: Flanigan, PubMed: Flanigan 2009 phenotype suggests effect on splicing M - United States - - 0 - - BMD - DMD DMD 1 1 Kevin Flanigan
00122453 - PubMed: Gurvich 2009 older brother of 43194 (I-2), carrier mother M - United States - - 0 - - BMD elementary school nocturnal muscle cramping; 28y-unable to walk stairs carrying supplies; progressive weakness, walked with assistive devices; 67y-profound limb-girdle weakness; loss ability to walk (HP:0006957) 7y DMD DMD 1 2 Kevin Flanigan
00122459 - PubMed: Tuffery-Giraud, {OMIM300377:0080}, UMD 1651 database - M - France - - 0 - - BMD intellectual disability (HP:0001249) DMD DMD 1 1 Mireille Claustres
00122460 - PubMed: Tuffery-Giraud, {OMIM300377:0081}, UMD 1596 database - M - France - - 0 - - BMD elevated serum CPK (HP:0003236) DMD DMD 1 1 Mireille Claustres
00122475 - PubMed: Hofstra - M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122476 - PubMed: Hofstra - M - Netherlands - - 0 - - BMD mild dystrophy; elevated serum CPK (HP:0003236) DMD DMD 1 1 Ieke Ginjaar
00122508 - PubMed: Hofstra no pathogenic change found M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122509 - PubMed: Hofstra - M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122510 - PubMed: Hofstra - M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122511 - PubMed: Hofstra - M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122513 - PubMed: Hofstra no pathogenic change found M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122514 - PubMed: Hofstra no pathogenic change found M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122528 - PubMed: Hofstra no pathogenic change found M - Netherlands - - 0 - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122546 - PubMed: Cagliani - M - - - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122552 - PubMed: Tuffery-Giraud, PubMed: Tuffery-Giraud, UMD 1511 database - M - France - - 0 - - BMD intellectual disability (HP:0001249) DMD DMD 1 1 Mireille Claustres
00122596 - PubMed: Suminaga, PubMed: Takeshima 2010 - M - Japan - - 0 - - BMD elevated serum CPK (HP:0003236) 1607-21100 DMD DMD 1 1 Masafumi Matsuo
00122648 - PubMed: Janssen 2005 - M - Germany - - 0 - - BMD - DMD DMD 1 1 Bart Janssen
00122655 - PubMed: Hamed 2005 - M - United States - - 0 - - BMD - DMD, SGCA DMD 1 1 Sherifa Hamed
00122656 - PubMed: Hamed 2005 - M - United States - - 0 - - BMD - DMD DMD 1 1 Sherifa Hamed
00122657 - PubMed: Hamed 2005 - M - United States - - 0 - - BMD - DMD, SGCA DMD 1 1 Sherifa Hamed
00122658 - PubMed: Hamed 2005 change suggested to distort actin binding site 2 M - United States - - 0 - - BMD - DMD DMD 1 1 Sherifa Hamed
00122659 - PubMed: Hamed 2005 change suggested to distort actin binding site 1 M - United States - - 0 - - BMD - DMD DMD 1 1 Sherifa Hamed
00122670 - PubMed: Kilimann - M - United States - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122672 - PubMed: Prior 2005 - M - - - - 0 - - BMD - DMD DMD 2 1 Franziska Joncourt
00122674 - PubMed: Prior 2005 family with 4 affected brothers M - United States - - 0 - - BMD - DMD DMD 1 4 Franziska Joncourt
00122682 - PubMed: Prior 2005 - M - United States - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122693 - PubMed: Prior 2005 - M - United States - - 0 - - BMD - DMD DMD 1 1 Madhuri Hegde
00122701 - PubMed: Prior 2005 - M - United States - - 0 - - BMD - DMD DMD 1 1 Johan den Dunnen
00122705 - PubMed: Tuffery 2005, UMD 1582 database - M - France - - 0 - - BMD cramps, CMD DMD DMD 1 1 Mireille Claustres
00122707 - PubMed: Tuffery 2005, UMD 1609 database - M - France - - 0 - - BMD - DMD DMD 1 1 Mireille Claustres
00122708 - PubMed: Tuffery 2005, GenBank - M - France - - 0 - - BMD - DMD DMD 1 1 Mireille Claustres
00122709 - PubMed: Tuffery 2005, UMD 1459 database seven affecteds M - France - - 0 - - BMD - DMD DMD 1 7 Mireille Claustres
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