Disease #05320 (BMD (dystrophy, muscular, Becker type (BMD)), OMIM:300376)

Official abbreviation BMD
Name dystrophy, muscular, Becker type (BMD)
OMIM ID 300376
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2626
Phenotype entries for this disease 2553
Associated with 1 gene DMD
Associated tissues -
Disease features -
Remarks -
Date created 2017-09-01 12:37:01 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2626 entries on 27 pages. Showing entries 1 - 100.
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00025504 - PubMed: Suminaga 2000 - M - Japan - - - - - BMD - ACTN3 ACTN3 2 32 Johan den Dunnen
00043858 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >27y - - 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 - - 1 Manuel F. Mas Rodriguez
00043869 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - 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 - - 1 Manuel F. Mas Rodriguez
00043875 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >30y - - 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 - - 1 Manuel F. Mas Rodriguez
00043929 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >40y - - 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 - - 1 Manuel F. Mas Rodriguez
00043930 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >39y - - 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 - - 1 Manuel F. Mas Rodriguez
00043934 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >38y - - 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 - - 1 Manuel F. Mas Rodriguez
00043937 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >44y - - 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 - - 1 Manuel F. Mas Rodriguez
00043943 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >31y - - 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 - - 1 Manuel F. Mas Rodriguez
00043944 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >45y - - 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 - - 1 Manuel F. Mas Rodriguez
00043945 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >51y - - 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 - - 1 Manuel F. Mas Rodriguez
00043946 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >57y - - 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 - - 1 Manuel F. Mas Rodriguez
00043947 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >32y - - 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 - - 1 Manuel F. Mas Rodriguez
00043952 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - 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 - - 1 Manuel F. Mas Rodriguez
00043953 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >15y - - 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 - - 1 Manuel F. Mas Rodriguez
00043956 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y - - 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 - - 1 Manuel F. Mas Rodriguez
00043960 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - 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 - - 1 Manuel F. Mas Rodriguez
00043961 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >14y - - 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 - - 1 Manuel F. Mas Rodriguez
00043962 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - 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 - - 1 Manuel F. Mas Rodriguez
00043964 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >72y - - 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 - - 1 Manuel F. Mas Rodriguez
00043971 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y - - 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 - - 1 Manuel F. Mas Rodriguez
00043975 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y - - 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 - - 1 Manuel F. Mas Rodriguez
00043976 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y - - 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 - - 1 Manuel F. Mas Rodriguez
00043977 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y - - 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 - - 1 Manuel F. Mas Rodriguez
00043978 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y - - 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 - - 1 Manuel F. Mas Rodriguez
00043980 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - 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 - - 1 Manuel F. Mas Rodriguez
00043981 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - 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 - - 1 Manuel F. Mas Rodriguez
00074390 - PubMed: Gualandi 2006 - M - (United Kingdom (Great Britain));(Italy) - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00081840 - PubMed: Luce 2018 PubMed: Luce 2021 mild affected grandfather (70y) M ? Argentina - - - - - BMD mildly affected grandfather (70y); CK level 5219-8376 U/L DMD DMD 2 1 Florencia Giliberto
00119112 #420 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - BMD raised CPK 12.330 UI/L DMD DMD 1 1 Florencia Giliberto
00119119 #398 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - BMD raised CPK 26.000 UI/L DMD DMD 1 1 Florencia Giliberto
00121938 - PubMed: Love - - - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00121993 - PubMed: Gardner, PubMed: Roberts, OMIM:var0054 uncle of 7668256-11a M - United Kingdom (Great Britain) - - - - - BMD CPK 800; loss ability to walk (HP:0006957) 21y DMD DMD 1 1 Emma Ashton
00122028 - PubMed: Nigro - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122042 - PubMed: Lenk acc. to Roberts, OMIM:var0035 - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122043 - PubMed: M¸ller acc. to Roberts, OMIM:var0033 - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122045 - PubMed: Roberts, OMIM:var0027 - M - - - - - - - BMD - DMD DMD 1 1 Emma Ashton
00122078 - PubMed: Hagiwara 1994, PubMed: Takeshima 2010, OMIM:var0042 - M - Japan - - - - - BMD - DMD DMD 1 1 Masafumi Matsuo
00122083 - PubMed: Lenk, OMIM:var0070 - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122090 - PubMed: Wilton, PubMed: Laing, OMIM:var0018 affected uncle and nephew M - - - - - - - BMD - DMD DMD 1 2 Johan den Dunnen
00122091 - PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, family with 4 affected males M - Italy - - - - - BMD - DMD DMD 1 4 Johan den Dunnen
00122106 - PubMed: Prior - M - United States - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122107 - PubMed: Bartolo - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122119 - PubMed: Barbieri - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122122 - PubMed: Barbieri - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122124 - PubMed: Patria 1996, PubMed: Takeshima 2010 - M - Japan - - - - - BMD elevated serum CPK (HP:0003236) 10820 DMD DMD 1 1 Masafumi Matsuo
00122126 - PubMed: Roest - M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122156 - PubMed: Sitnik change in healthy relatives BMD patient M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122157 - PubMed: Sitnik - M - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122162 - PubMed: Shiga, PubMed: Takeshima 2010, OMIM:var0074 - M - Japan - - - - - BMD - DMD DMD 1 1 Masafumi Matsuo
00122164 - PubMed: Melis 1998 - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122233 10196701-PatD320 PubMed: Kekou 1999 - M - Greece - - - - - 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 - - - - - BMD elevated serum CPK (HP:0003236) 6860 DMD DMD 1 1 Sarah Lang
00122270 - PubMed: Fajkusova, PubMed: Sedlackova 2009 - M - Czech Republic - - - - - BMD - DMD DMD 1 1 Jana Zidkova
00122369 - PubMed: Nobile - - - - - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122390 - PubMed: Feng family with seven affecteds M - United States African-American 11y - - - BMD - DMD DMD 1 7 Johan den Dunnen
00122401 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122404 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122405 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122406 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122407 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122409 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122410 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122411 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122412 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122413 - PubMed: Toffolatti - M - Italy - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122415 - PubMed: Yagi, OMIM:var0083 - M - - - - - - - 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 - - - - - BMD - DMD DMD 1 1 Kevin Flanigan
00122446 - PubMed: Flanigan, PubMed: Flanigan 2009 three affecteds M - United States - - - - - BMD - DMD DMD 1 3 Kevin Flanigan
00122447 - PubMed: Flanigan, PubMed: Flanigan 2009 phenotype suggests effect on splicing M - United States - - - - - BMD - DMD DMD 1 1 Kevin Flanigan
00122453 - PubMed: Gurvich 2009 older brother of 43194 (I-2), carrier mother M - United States - - - - - 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, OMIM:var0080, UMD 1651 database - M - France - - - - - BMD intellectual disability (HP:0001249) DMD DMD 1 1 Mireille Claustres
00122460 - PubMed: Tuffery-Giraud, OMIM:var0081, UMD 1596 database - M - France - - - - - BMD elevated serum CPK (HP:0003236) DMD DMD 1 1 Mireille Claustres
00122475 - PubMed: Hofstra - M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122476 - PubMed: Hofstra - M - Netherlands - - - - - BMD mild dystrophy; elevated serum CPK (HP:0003236) DMD DMD 1 1 Ieke Ginjaar
00122508 - PubMed: Hofstra no pathogenic change found M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122509 - PubMed: Hofstra - M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122510 - PubMed: Hofstra - M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122511 - PubMed: Hofstra - M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122513 - PubMed: Hofstra no pathogenic change found M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122514 - PubMed: Hofstra no pathogenic change found M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122528 - PubMed: Hofstra no pathogenic change found M - Netherlands - - - - - BMD - DMD DMD 1 1 Ieke Ginjaar
00122546 patient PubMed: Cagliani 2004 no family history of muscle disease M - Italy - - - - - BMD see paper; ... DMD DMD 1 1 Johan den Dunnen
00122552 - PubMed: Tuffery-Giraud, PubMed: Tuffery-Giraud, UMD 1511 database - M - France - - - - - BMD intellectual disability (HP:0001249) DMD DMD 1 1 Mireille Claustres
00122596 - PubMed: Suminaga, PubMed: Takeshima 2010 - M - Japan - - - - - BMD elevated serum CPK (HP:0003236) 1607-21100 DMD DMD 1 1 Masafumi Matsuo
00122648 - PubMed: Janssen 2005 - M - Germany - - - - - BMD - DMD DMD 1 1 Bart Janssen
00122655 - PubMed: Hamed 2005 - M - United States - - - - - BMD - DMD, SGCA DMD 1 1 Sherifa Ahmed Hamed
00122656 - PubMed: Hamed 2005 - M - United States - - - - - BMD - DMD DMD 1 1 Sherifa Ahmed Hamed
00122657 - PubMed: Hamed 2005 - M - United States - - - - - BMD - DMD, SGCA DMD 1 1 Sherifa Ahmed Hamed
00122658 - PubMed: Hamed 2005 change suggested to distort actin binding site 2 M - United States - - - - - BMD - DMD DMD 1 1 Sherifa Ahmed Hamed
00122659 - PubMed: Hamed 2005 change suggested to distort actin binding site 1 M - United States - - - - - BMD - DMD DMD 1 1 Sherifa Ahmed Hamed
00122670 - PubMed: Kilimann - M - United States - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122672 - PubMed: Prior 2005 - M - - - - - - - BMD - DMD DMD 2 1 Franziska Joncourt
00122674 - PubMed: Prior 2005 family with 4 affected brothers M - United States - - - - - BMD - DMD DMD 1 4 Franziska Joncourt
00122682 - PubMed: Prior 2005 - M - United States - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122693 - PubMed: Prior 2005 - M - United States - - - - - BMD - DMD DMD 1 1 Madhuri Hegde
00122701 - PubMed: Prior 2005 - M - United States - - - - - BMD - DMD DMD 1 1 Johan den Dunnen
00122705 - PubMed: Tuffery 2005, UMD 1582 database - M - France - - - - - BMD cramps, CMD DMD DMD 1 1 Mireille Claustres
00122707 - PubMed: Tuffery 2005, UMD 1609 database - M - France - - - - - BMD - DMD DMD 1 1 Mireille Claustres
00122708 - PubMed: Tuffery 2005, GenBank - M - France - - - - - BMD - DMD DMD 1 1 Mireille Claustres
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