All individuals with variants in gene DMD

17277 entries on 173 pages. Showing entries 1 - 100.
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00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, CF - 1 1 LOVD-team, but with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 33 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 31 1 Yu Sun
00016140 - - - ? ? Netherlands Caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00034399 - PubMed: Brown 1996 - M - - - - 0 - - CGDX, MCLDS - 1 1 Johan den Dunnen
00034400 - PubMed: Hellerud 2003 - M - Poland - - 0 - - AHC, GKD - 1 1 Johan den Dunnen
00034401 - PubMed: Hellerud 2003 - M - Poland - - 0 - - AHC, GKD - 1 1 Johan den Dunnen
00034402 - PubMed: McCabe 1989 - M - United States - - 0 - - AHC, GKD dystrophic myopathy 1 1 Johan den Dunnen
00034404 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034405 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, DMD, GKD, MRX;IDX intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00034406 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, GKD, MRX;IDX intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00034407 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034408 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034409 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - GKD, MRX;IDX - 1 1 Johan den Dunnen
00034410 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - GKD, MRX;IDX , intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00034411 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034412 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034413 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034414 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034415 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034416 - PubMed: Bovolenta 2008 Pat4 M - Italy - - 0 - - MRX;IDX - 2 1 Alessandra Ferlini
00034417 - PubMed: Piko 2009 - ? - Hungary - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00034418 - PubMed: Piko 2009 - ? - Hungary - - 0 - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034419 - PubMed: Romero 1997 uncle of 09447607-III.5 M - France - - 0 - - ?, GKD asymptomatic (MD); CK 668, large increase glycerol elimination urine 1 1 Johan den Dunnen
00034420 - PubMed: Romero 1997 half-brother of 09447607-III.5, 6; carrier mother M - France - - 0 - - ?, GKD asymptomatic, no calf hypertrophy, CK 9000; walk:20m, large increase glycerol elimination urine 1 1 Johan den Dunnen
00034421 - PubMed: Romero 1997 3-generation family, brother of III.5; carrier mother M - France - - 0 - - ?, GKD asymptomatic (MD); walk:15m, large increase glycerol elimination urine 1 5 Johan den Dunnen
00034422 - PubMed: Chelly 1988, UMD 727 database mother carrier M - (France) - 22y 0 - - AHC, GKD, MRX;IDX poor psychomotor development, IQ45; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue 1 2 Johan den Dunnen
00034423 - L Medne ASHG 2010 A1669 younger brother of A1669Pat5 M - - - - 0 - - GKD , hypotonia, developmental delay; FTT, raised lactate/transaminases; elevated serum CPK (HP:0003236) 18061 1 1 Johan den Dunnen
00035588 - - - - - Germany - - 0 - - ? BMD 1 1 Andreas Laner
00035589 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035590 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035591 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035592 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035593 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035594 - - - - - Germany - - 0 - - ? DMD 1 1 Andreas Laner
00035595 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035596 - - - - - Germany - - 0 - - ? DMD 1 1 Andreas Laner
00035597 - - - - - Germany - - 0 - - ? suspected Dystrophinopathie 1 1 Andreas Laner
00035598 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035599 - - - - - Germany - - 0 - - ? suspected genetic predisposition DMD 1 1 Andreas Laner
00035600 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035601 - - - - - Germany - - 0 - - ? suspected Dystrophinopathie 1 1 Andreas Laner
00035602 - - - M - Germany - - 0 - - - - 1 1 Andreas Laner
00035603 - - - - - Germany - - 0 - - ? carrier? 1 1 Andreas Laner
00035604 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035605 - - DMD carrier F - Germany - - 0 - - - - 1 1 Andreas Laner
00035606 - - - M - Germany - - 0 - - ? 2006 cardiomyopathy (HP:0001638); post cardiac transplantation, proximal and lower limb betonte myasthenia (Gower sign positive), sural hypertrophy, patient with suspected BMD, daughter with increased CK 1 1 Andreas Laner
00035607 - - - - - Germany - - 0 - - MD suspected muscular dystrophy 1 1 Andreas Laner
00035608 - - - - - Germany - - 0 - - ? suspected BMD/DMD, former premature baby 29+3 gestation week, Macrocephalus (dilatation of internal and external substarachnoid spaces), CK-increase 1 1 Andreas Laner
00035609 - - - - - Germany - - 0 - - ? suspected DMD ( motoric and verbal retardation, problems with walking during climbing stairs, innate hypothyroidism ( thyroxine therapy) 1 1 Andreas Laner
00035610 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035611 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035612 - - - - - Germany - - 0 - - ? suspected DMD 1 1 Andreas Laner
00035613 - - - - - Germany - - 0 - - MD myopathy vague, suspected muscular dystrophy, loss of ambulatory ability since the seventh year of life, free walking at 2.5y, hypotonia 1 1 Andreas Laner
00035614 - - - M - Germany - - 0 - - - - 1 1 Andreas Laner
00035615 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035616 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035617 - - - F - Germany - - 0 - - CM severe cardiomyopathy, suspected DMD-carrier, son has DMD (pathogenic variant DMD-gene) 1 2 Andreas Laner
00035618 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035619 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035620 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035621 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035622 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035623 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035624 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00043841 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >11y 0 - medication creatine; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >11y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 17940; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043842 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y 0 - no medication; BiPaP ventilator; no surgery scoliosis/contractures - contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); restrictive lung disease (HP:0002091); CK level 13000 1 1 Manuel F. Mas Rodriguez
00043843 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y 0 - medication steroids; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 6791; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043844 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >9y 0 - medication steroids; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043845 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication; BiPaP ventilator; no surgery scoliosis/contractures - confirmatory test DNA; 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) 1 1 Manuel F. Mas Rodriguez
00043846 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y 0 - medication creatine; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 14050; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043847 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y 0 - no medication; no ventilator; no scoliosis surgery - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) >2000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043848 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - medication creatine - confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 1489; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043849 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - no medication; no scoliosis surgery; - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 11500; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043850 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y 0 - no medication; no ventilator; - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043851 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >13y 0 - medication creatine; no ventilator; - no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >13y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 4218 1 1 Manuel F. Mas Rodriguez
00043852 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y 0 - medication steroids; no scoliosis surgery; - confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >7y; no contractures (-HP:0001371); CK level 2458; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043853 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y 0 - no medication; no ventilator; no surgery scoliosis/contractures - confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043854 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >5y 0 - no medication; no ventilator; - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >5y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 28712; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043855 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >8y 0 - no medication - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 13469; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043856 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >11y 0 - no medication; no ventilator; - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >11y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043879 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y 0 - medication steroids; no scoliosis surgery, surgery contractures; - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 13339; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043880 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >14y 0 - - - confirmatory test DNA; 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) 1 1 Manuel F. Mas Rodriguez
00043881 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >15y 0 - no medication; mechanical ventilator; no surgery scoliosis/contractures - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 7167; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043882 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y 0 - medication steroids; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 16971; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043883 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >9y 0 - medication steroids; no ventilator; no surgery scoliosis/contractures - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 20844; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043884 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - no medication; BiPaP ventilator; no surgery scoliosis/contractures - 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) 1 1 Manuel F. Mas Rodriguez
00043885 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y 0 - no medication; no ventilator; - confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 2325; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043886 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y 0 - medication steroids; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 67337; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043887 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >20y 0 - no medication; no ventilator; surgery contractures - confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 4836; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043888 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - no medication; no ventilator; no scoliosis surgery - confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >18y; no contractures (-HP:0001371); CK level 8292; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043889 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >24y 0 - no medication; no ventilator; no scoliosis surgery - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 15-24y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043890 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y 0 - no medication; no ventilator; - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >23y; no contractures (-HP:0001371); CK level 13740; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043891 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >35y 0 - no medication; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >35y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043892 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y 0 - no medication; no scoliosis surgery; - confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 34000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043893 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y 0 - medication steroids; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 27580; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043894 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y 0 - no medication; no ventilator; no surgery scoliosis/contractures - confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >10y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043895 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y 0 - no medication; no ventilator; no surgery contractures - confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >26y; contractures (HP:0001371); CK level 1593; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
00043896 - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - no medication; no ventilator; no surgery contractures - confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >18y; contractures (HP:0001371); CK level 10000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) 1 1 Manuel F. Mas Rodriguez
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