Disease #05378

Official abbreviation BMD/DMD
Name dystrophinopathy (BMD or DMD)
OMIM ID -
Individuals reported having this disease 864
Phenotype entries for this disease 3477
Associated with 1 gene DMD
Associated tissues -
Disease features -
Remarks -


Individuals

864 entries on 9 pages. Showing entries 1 - 100.
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00043866 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y 0 - medication steroids; no ventilator; surgery contractures BMD/DMD contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 4439 DMD - 0 1 Manuel F. Mas Rodriguez
00043867 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y 0 - medication steroids; no ventilator; no surgery scoliosis/contractures BMD/DMD confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 19076; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043868 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y 0 - no medication; no ventilator; no surgery contractures BMD/DMD confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); CK level 18065; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) DMD - 0 1 Manuel F. Mas Rodriguez
00043873 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y 0 - no medication; no ventilator; BMD/DMD no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >12y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 618 DMD - 0 1 Manuel F. Mas Rodriguez
00043874 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication; no ventilator; BMD/DMD 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 23742 DMD - 0 1 Manuel F. Mas Rodriguez
00043963 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >6y 0 - no medication; no ventilator; BMD/DMD no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >6y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 15462 DMD - 0 1 Manuel F. Mas Rodriguez
00105210 patient PubMed: Koczok 2017 - M no Hungary - - 0 - - BMD/DMD mild generalized muscle weakness, hypotonia, delayed motor development; EMG myopathic features; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 1497 DMD DMD 1 1 Katalin Koczok
00126986 26956251-FamPatIII1 PubMed: Punetha 2016 2-generation family, 4 affecteds (boy, 3 uncles, unaffected carrier mother/grandmother M no United States - - 0 - - BMD/DMD hemi-atrophy, weakness, largely limited to left side; EMG dystrophic myopathy, raised serum CPK (HP:0003236) (43000 IU/l; n: 200 IU/l) DMD DMD 2 4 Jaya Punetha
00127310 - Richards ASHG 2003 A2335 - - - United States - - 0 - - BMD/DMD - DMD DMD 1 1 Johan den Dunnen
00133292 - Ginjaar WMS2005 2 patients - - Netherlands - - 0 - - BMD/DMD - SGCA SGCA 2 2 Ieke Ginjaar
00133300 - PubMed: Ginjaar - F ? Netherlands - >18y 0 - - BMD/DMD 14y-inable to walk (HP:0002540); 90x elevated CPK (HP:0003236) SGCA SGCA 2 1 Ieke Ginjaar
00133303 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD 12y-inable to walk (HP:0002540) SGCA SGCA 1 1 Johan den Dunnen
00133310 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD >13y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133311 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD >12y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133312 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD >9y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133313 - PubMed: Schara - M - Russia - - 0 - - BMD/DMD 12y-inable to walk (HP:0002540); 6360 elevated CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133316 - PubMed: Carrie 1997 - - - United States - - 0 - - BMD/DMD - SGCA SGCA 2 1 Johan den Dunnen
00133346 - {DB: Porto} - M - Portugal - - 0 - - BMD/DMD - SGCA SGCA 2 1 Johan den Dunnen
00133357 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD 12y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133363 - PubMed: Fischer see also heterozygotes SGCA_00023 F - Germany - >11y 0 - - BMD/DMD 7449 elevated CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133365 - PubMed: Duggan - - - - - - 0 - - BMD/DMD - SGCA SGCA 1 1 Johan den Dunnen
00133374 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD 10y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133379 - PubMed: Boito - F - Italy - - 0 - - BMD/DMD 12y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133380 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD >10y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133381 - PubMed: Duggan - - - - United States/Italy - 0 - - BMD/DMD >14y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133468 - PubMed: Eymard 1997, PubMed: Crosbie 2000 - F no (Italy);(France) Europe >21y 0 - - BMD/DMD clinical grade VII, walk tip-toe; <15y-inable to walk (HP:0002540) SGCA SGCA 2 1 Johan den Dunnen
00133470 - PubMed: Eymard 1997 - M no (Italy);(France) Europe >29y 0 - - BMD/DMD - SGCA SGCA 2 1 Johan den Dunnen
00138945 - - - M - Netherlands - - 0 - - BMD/DMD 6y-diagnosis; 14y-condition stable, able to skate, stand up from lying down without support hand DMD DMD 1 1 Ieke Ginjaar
00139205 - - - M - Germany - - 0 - - BMD/DMD elevated CK (2500 U/L), muscle pain, muscle cramps, muscle weakness DMD DMD 1 1 Ieke Ginjaar
00150889 27750387-Pat? PubMed: Zhong 2017 - M - China - - 0 - - BMD/DMD - DMD DMD 1 1 Johan den Dunnen
00150905 27750387-Pat? PubMed: Zhong 2017 - M - China - - 0 - - BMD/DMD - DMD DMD 1 1 Johan den Dunnen
00150976 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00150986 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00150996 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00150999 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151000 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151014 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151015 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151020 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151035 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151039 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151040 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151046 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151049 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151057 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151061 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151062 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151064 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151065 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151066 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151067 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151068 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151069 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151070 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151072 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151074 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151077 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151078 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151079 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151080 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151081 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151086 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151090 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151091 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151092 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151093 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151094 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151095 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151096 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151097 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151098 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151099 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151100 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151102 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151105 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151107 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151108 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151109 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151110 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151111 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151112 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151115 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151116 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151118 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151119 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151121 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151123 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151124 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151125 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151126 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151127 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151128 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151130 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151131 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151132 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151133 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151134 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151135 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151136 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
00151137 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - BMD/DMD - DMD DMD 1 1 Moon-Woo Seong
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