Knowledge (XXG)

Dystrophinopathy

Source đź“ť

470: 491: 532: 294: 426: 349: 344: 525: 354: 371: 241:
Beggs, AH (20 May 1997). "Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy".
287: 556: 518: 387: 327: 398: 317: 551: 473: 332: 280: 100: 50: 393: 339: 104: 54: 112: 62: 366: 303: 216: 403: 258: 208: 160: 77: 27: 502: 498: 250: 200: 420: 128: 116: 438: 545: 432: 359: 220: 120: 124: 204: 455: 254: 156: 96: 32: 212: 164: 262: 127:, dystrophinopathy mainly affects males, whereas females range from being 115:. The mild end of the spectrum includes asymptomatic increases in serum 490: 272: 131:, to having delayed-onset and mild disease, to having severe DMD. 99:
protein found in muscle. The severe end of the spectrum includes
276: 155:
Darras, Basil T; Urion, David K; Ghosh, Partha S (2022-01-20).
236: 234: 232: 230: 191:
Thangarajh, M (December 2019). "The Dystrophinopathies".
91:
refers to a spectrum of diseases due to mutations in the
506: 186: 184: 182: 180: 448: 413: 380: 310: 76: 68: 46: 38: 26: 21: 150: 148: 146: 144: 526: 288: 8: 533: 519: 295: 281: 273: 18: 140: 123:. Because dystrophin is located on the 159:. University of Washington, Seattle. 7: 487: 485: 381:National/International Organizations 72:Genetic (inherited or new mutation) 505:. You can help Knowledge (XXG) by 14: 489: 469: 468: 388:Muscular Dystrophy Association 355:Limb–girdle muscular dystrophy 193:Continuum (Minneapolis, Minn.) 1: 414:National/International Events 399:Myotonic Dystrophy Foundation 205:10.1212/CON.0000000000000791 95:gene, which encodes for the 101:Duchenne muscular dystrophy 51:Duchenne muscular dystrophy 573: 484: 464: 394:Muscular Dystrophy Canada 255:10.1161/01.cir.95.10.2344 105:Becker muscular dystrophy 55:Becker muscular dystrophy 119:and muscle cramps with 557:Genetic disorder stubs 113:dilated cardiomyopathy 63:dilated cardiomyopathy 456:Stamulumab (MYO-029) 429:(defunct; US/Canada) 157:"Dystrophinopathies" 350:Facioscapulohumeral 552:Muscular dystrophy 427:Labor Day Telethon 304:Muscular dystrophy 514: 513: 482: 481: 404:Muskelsvindfonden 86: 85: 78:Diagnostic method 16:Medical condition 564: 535: 528: 521: 499:genetic disorder 493: 486: 472: 471: 323:Dystrophinopathy 297: 290: 283: 274: 267: 266: 238: 225: 224: 199:(6): 1619–1639. 188: 175: 174: 172: 171: 152: 89:Dystrophinopathy 22:Dystrophinopathy 19: 572: 571: 567: 566: 565: 563: 562: 561: 542: 541: 540: 539: 483: 478: 460: 449:Clinical trials 444: 421:MDA Muscle Walk 409: 376: 372:Oculopharyngeal 306: 301: 271: 270: 240: 239: 228: 190: 189: 178: 169: 167: 154: 153: 142: 137: 117:creatine kinase 82:Genetic testing 17: 12: 11: 5: 570: 568: 560: 559: 554: 544: 543: 538: 537: 530: 523: 515: 512: 511: 494: 480: 479: 477: 476: 465: 462: 461: 459: 458: 452: 450: 446: 445: 443: 442: 436: 430: 424: 417: 415: 411: 410: 408: 407: 401: 396: 391: 384: 382: 378: 377: 375: 374: 369: 364: 363: 362: 352: 347: 345:Emery-Dreifuss 342: 337: 336: 335: 330: 320: 314: 312: 308: 307: 302: 300: 299: 292: 285: 277: 269: 268: 249:(10): 2344–7. 226: 176: 139: 138: 136: 133: 84: 83: 80: 74: 73: 70: 66: 65: 48: 44: 43: 40: 36: 35: 30: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 569: 558: 555: 553: 550: 549: 547: 536: 531: 529: 524: 522: 517: 516: 510: 508: 504: 501:article is a 500: 495: 492: 488: 475: 467: 466: 463: 457: 454: 453: 451: 447: 440: 437: 434: 431: 428: 425: 422: 419: 418: 416: 412: 405: 402: 400: 397: 395: 392: 389: 386: 385: 383: 379: 373: 370: 368: 365: 361: 360:Calpainopathy 358: 357: 356: 353: 351: 348: 346: 343: 341: 338: 334: 331: 329: 326: 325: 324: 321: 319: 316: 315: 313: 309: 305: 298: 293: 291: 286: 284: 279: 278: 275: 264: 260: 256: 252: 248: 244: 237: 235: 233: 231: 227: 222: 218: 214: 210: 206: 202: 198: 194: 187: 185: 183: 181: 177: 166: 162: 158: 151: 149: 147: 145: 141: 134: 132: 130: 126: 122: 121:myoglobinuria 118: 114: 110: 106: 102: 98: 94: 90: 81: 79: 75: 71: 67: 64: 60: 56: 52: 49: 45: 41: 37: 34: 31: 29: 25: 20: 507:expanding it 496: 439:Grøn Koncert 322: 246: 242: 196: 192: 168:. Retrieved 125:X chromosome 111:-associated 108: 92: 88: 87: 61:-associated 58: 243:Circulation 107:(BMD), and 546:Categories 433:DĂ©crypthon 318:Congenital 170:2024-08-06 135:References 97:dystrophin 441:(Denmark) 406:(Denmark) 221:208531731 42:Long term 33:Neurology 28:Specialty 474:Category 435:(France) 367:Myotonic 333:Duchenne 328:Becker's 213:31794463 165:20301298 129:carriers 39:Duration 263:9170393 103:(DMD), 340:Distal 261:  219:  211:  163:  69:Causes 497:This 311:Types 217:S2CID 47:Types 503:stub 423:(US) 390:(US) 259:PMID 209:PMID 161:PMID 251:doi 201:doi 109:DMD 93:DMD 59:DMD 548:: 257:. 247:95 245:. 229:^ 215:. 207:. 197:25 195:. 179:^ 143:^ 57:, 53:, 534:e 527:t 520:v 509:. 296:e 289:t 282:v 265:. 253:: 223:. 203:: 173:.

Index

Specialty
Neurology
Duchenne muscular dystrophy
Becker muscular dystrophy
dilated cardiomyopathy
Diagnostic method
dystrophin
Duchenne muscular dystrophy
Becker muscular dystrophy
dilated cardiomyopathy
creatine kinase
myoglobinuria
X chromosome
carriers




"Dystrophinopathies"
PMID
20301298




doi
10.1212/CON.0000000000000791
PMID
31794463
S2CID

Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.

↑