先天性筋ジストロフィー（CMD）のお子さんを持つ
Contents
1. ULL IIT2. RD RDs
3. CMD
4. e 2 26
5. AAA SOMA CHB OP iE SOV OR R ISIE PERAHE gi GER
6. PAP PAP CPAP Bi PAP 2
7. 1 EEG EEG EEG EEG MRI MRI 2
8. 2 DAB PDO OCs SERIE AST KH ev A Fe SEPN1 RYR1 CMD 1 1 CMDs
9. CMD 1
10. CMD CMD e e e e
11. 2 1
12. PECS Picture Exchange Communication System DynaVox TapToTalk ii TF CMD
13. curecmd org CMD CMD CMD
14. 2 4 6 CMO B 12 CMD 3 4 1
15. fil Merosin Positive Mums for Merosin Negative Kids Facebook LMNA RD SEPN1 RM CMD Walker Warburg aDG RD Yahoo e CureCMD curecmd org e WAT e
16. GERRA TEW JHE Bi PAP Bi PAP
17. 1 RR FIORI BIR T DER KUIER CO 23
18. FEHED 2 HA O CMD
19. CMDs TE y TExB 4 1
20. NG BF aT G Nissen Ae
21. reg CPAP CPAP
22. FAT s e e 1 2 e RRR LOVETT SAV CH BY REO HOMXAKETSA
23. MRI SEPN1 CMD MRI LAMA2 CMD CMD CMD CMD CMD
24. 5 Ge ae 2 3 OD 1
25. La I CA e RER
26. Bi PAP 30 SEPN1 CMD RSMD SEPN1 weak neck SERIJE F E 2
27. BO CT 10 o e o
28. e e e e e 30 SS CC IK 15 5 CMD
29. To 29 Efa 90 EPE Bitte AMEE RTO HERNI AEE amp REDT IC AYRE ZS
30. CMD GER OEIC P ERIE IM GER CMD a MORF AZII WHORE TERORA JI BH SX A OPO PEREIL ATRYN ERORE R E URT E EKR SOS CRO Behl Ss EL CORE KO CMD
31. ae OT RE AW EK RRE gt BE PIC DBA O AAA amp Ue L IMER ORO IC
32. CMD CMD MP ol CMD LGMD 6 COL6 RM UCMD e
33. ag ECG EKG PCG 1 EEG BR fase EEG EEBG
34. LAL MRI 1 MRI re gp
35. He wae 4 PHARRR RE ZR TEINI AL ER Ri RET AERD ERER 88 CMD GER CMD
36. CMD CMD ie GW Sep CMD Be Js 2 Bele Ley OE 7 SE Onn CMD
37. IPV TPV Wee aa J MRI MRI CT X MRI MRI MRI Google
38. PAP ax RBA AFO AFO FRAR t EORICH DET THAL He AFO tk
39. SEPN1 L CMD SEPN1 SEPN1 L CMD 1 SG CMD UCMD CMD HH
40. CMWD 4 CMD ee LAMA A LMNA RD COL6 RM SEPN1 RM RYR1 RM
41. CMD xR MWO 34 PEENE ED LEP EH FP Peay FAG IZ
42. UBM RAE FVC
43. RAR VPA R EF TZARRA X 2 HE BERR MOEA
44. CMD CMD CO2 ae me CMD NN 9 CMD o 12 EE DFA TELA AS A ICIADS 4 DO 2 HEIST UT FRESE OUEST X IE DE
45. ead eee ee ON ea 9 CMD
46. o2 oe2 VY LAMA2 1 1 2 MRI RYR1 RYR1 2 CMD 1
47. 5 CMD COL6 RM aDG RD SEPN1 RM Lp pit gt CMD gt bz oa a a DG RD LAMA2 RD _ Aa 57 ae gt LMNA RD COL6 RM LAs AT REJJ T 12 SAD Pata UCMD LAMA2 RD LMNA RD 0 10 oe SEPN1 RM LMNA RD COL6 RM eee os ote E J RYE E FT RE SER EL LMNA RD SEPN1 RM LAMA2 RD 2 10 CMD UCMD COL6 UCMD COL6
48. CMD D
49. 2 C ACE ACE ACE Sey Cl ACE ACE
50. G 1 CMD CMD e aDG RD e LAMA2 RD e LAMA2 DMC e RYR1 RM e aDG RD e aDG RD incluyendo Fukuyama WWS MEB e SEPN1 RM e RYR1 RM e COL6 RM e SEPN1 RM e aDG RD e LAMA2 RD e LMNA RD WWS MEB e COL6 RM e SEPN1 RM e RYR1 RM aDG RD a FKRP CMD LAMA2 RD CMD MEB POMT1 0 1 SEPN1 RM WWS Walker Warburg LMNA RD
51. C CMD CMD CMD CMD 2
52. LGMD LGMD CMDs LGMD LAMA2 ee LMNA oDG 1 CMD LGMD CMD LGMD na2 MDC1A CMD LAMA2 CMD LAMA2 RD
53. e growing rod growing rod ToT 4 CMD e s
54. Z J CM CD CM CM
55. 3 HE 3 CMD E REI AI DRK Ba Oia 2S ARE BEZ U APS VY IRA EA SEE CMD 2 AA
56. EEG IN N 35 A FVC FVC
57. MOR PFTs RE 5 C S
58. efa org epilepsy com HARE CMD am RSS
59. IPVY AEX 14 1 CMD SAGE CRAIG Fe ble 6 Ole 258 2 3 CO02
60. 24 DUR WBS Br HESS KOGAO ADA hhv F AFO DAFO AFO MAFO KAFO AFO OSs SEMI EDET TET A EOC FoR E DHE amp gt
61. CMD RAY CMD CMD CMD MRE LAMA2 COL6 aDGC 40 CMD CMD 41 Chair of Cure CMD Anne Rutkowski MD Susan Sklaroff Van Hook Diane Smith Hoban Meganne Leach MSN APRN PNP BC Katy Meilleur PhD CRNP National Institutes of Health Thomas Se jer sen MD Karolinska Institutet Kate Bushby MD Newcastle University Ching H Wang Stanford University Carst
62. CMD 5 EK WA EEA ORES OEM UL 6 e es 6
63. 1 18 DROE DIROS T CMD CMD RFP a JO se Ve Cie Se Pda Y ote CMD N DA 7 Y 7 ERD OEE a Cs a a CMD 4
64. Ax i OMD CC OT TO OR DE OS ETE 10 CMD
65. LMNA CMWD L CMD A C LMNA LMNA LAMA2 CMD 4A2 LAMA2 LMNA RD 22 dropped head syndrome LMNA RD VET LMNA RD 2 2 CMD LMNA RD
66. CMD 8 15 CMD CMD ET eT ICO ich oC to CVE De 2
67. CMD 27 CMD
68. automatic implantable cardioverter defibrillator AICD AICD je A CV J g a d Ll F
69. EME ELGI Coumadin AU FIV BIR VAST eo Vas Pe
70. LGMD e LGMD SEPN1 SEPN1 RM RSMD1 e Mallory 1 continua en la pagina 4 1 continta RYR1 RYR1 RM RYR1 CMD e RYR1 RYRI RM e _ CMD LMNA LMNA RD L CMD LMNA CMD e Dropped head syndrome e Emery Dreifuss
71. CMD 4 L CMD 6 aDG RD Fukutin FKRP 1 aDG RD LAMA2 5 10 1 BCC ACEBE
72. KiE ocDG RD y CMD COL6 RM 6 LAMA2 a RYR1 RM 1 SEPN1 RM N1 LMNA RD A C CMD 19 R ys CMD BCG 72 BCG ECG 2
73. 26 A q qaDG RD Walker Warburg WWS MEB UA MRI e
74. are 32
75. 36 RIRE F MIR LAH A OBE CIENO EER ACT ER
76. VMK BY CMWD LMNA RD aDG RD LAMA2 RD CMD 1 LMNA RD CMD CMD IR CMD CMD aDG OH
77. L CMD Dropped head syndrome L CMD L CMD Bmery Dreifuss LMNA CMD CMD CMD CMD CMD CWMD viene de la pagina 2 LOM CMD CMD CMD CMD
78. 1 Biik Ae NG Nissen Rakes hz nei GER deg 37
79. qa2 LAMA2 RD LAMA2 CMD MDC1A CMD qa2 s e LAMA2 CMD LAMA2 RD q qaDG RD e Walker Warbure e e CMD CMD MRI CMD
80. B 8 Bi PAP bilevel positive airway pressure AME Bi PAP 2 Bi PAP 02 C02 pH 1 IDADTE
81. 2 CMD JZE e COL6 RM 11 e SEPN1 RM 10 ay 11 aDG EF TD BE RD WWS MEB 1 ocDG RD LGMD e Sit CMD
82. MDs RA 008 CN 2 MDs MDs DOs DOs Dos PA PAs GER
83. CMD 5 3 3 CMD DET
84. D CMD AL CMD CMD CK CMD CMD I PEE TIIE LERE 6 COL6A1 COL6A2 COL6A3
85. CO2 1 13
86. 02 C02 GER G KET TOFEC Fill ko CKD 6 ABO HPIC G PEG WMic Key Bard LET
87. 3 6 1 CMID 1 CMD 20 CMD 18 CMD Walker Warburg WWS 6 40 WWS 60 CMD CMD cmdir org
88. OF Hh OAH WERE 38 To EK BML CWS EACH ASI ORBLE HO 2
89. CAR LICRIC KE RBIS OD RREGREARIC LO PUAS RN RNs MD NP
90. CMD LAMA2 RD a DG RD 2 CMD AP MRI MRI yDGC RD eDG RD MRI LAMA2 RD CMD
91. 2 CMD EIR E TRO ED BRA RRISLAMA2 amp COL6EM eoDG CMD 39 CMD Dehenne COL6
92. CMD CMD PS B
93. CMD CMD CMD CMD CMD continua en la p gina 4 CMD
94. CMD 20 J 2 2 4 gt e 2 8 LMNA RD
95. CMD 5 CMD CMD Cure_ CMD curecmd org TREAT NMD treat nmd eu AFM Associa tion Francaise contre les Myopathies afm france org KU Telethon Italy telethon it WEC C 0 Journal of Child Neurology Ching H Wang et al Consensus Statement on Standard of Care for Congenital Muscular Dystrophies J Child Neurology 2010 25 12 1559 1581 Published online 15 Nov 2010 ae http www curecmd org wp content uploads cmdcare cmd guide pdf CMD ICU 7
96. er ee haze CMD CMD 3 ao 2 5 5
97. GER Waa NP Bao Meo Cea lO CER
98. CMD WEE MIRET RA BIRKA FENS He RCSLT EDA UF OYVa VAL SL
99. COL6 6 MDCIA MDC1A LAMA2 RD ocDG RD a CMD COL6 RM 6 LAMA2 RD MDC1A eo2 RYR1 RM 1 SEPN1 RM N1 LMNA RD A C CMD E CMD
100. CMD 02 C02 02
101. FKRP LAMA2 A2 LGMD MEB SEPN1 WWS Walker Warburg 11 CMD 6 1 CN GS 2 FVC
102. o o 94 e C02 X
103. 82 e e CMD e CMD e 2009 11 2 CMD vav W PIR LORENA TED 7 A B C D
104. BiPAP 02 C02 C02 CO2 BiPAP e MERAH UA o PV s CMD
105. LGMD HE 1 CMD A 3 CMD IS BW Deen CK 2 eyes a WC Ae ZBI DS MEF i ADORADA oL B Toe aa aa ee one GA PS 285 CEE Cis NIChES SETAE LS
106. CE a a PFT a ee EEST Me P CY A ay 1 e 1
107. A C CMD Fukutin FKRP POMT1 ocDG RD 2 3 3 1 eDG RD LAMA2 CMD LAMA2 RD LAMA2 RD
108. 2 LAMA2 RD oDG RD 02 C02 02 C02 CMD CMD
109. cDG RD 3 H Gona ERORAR LOURO Vit ASE AAR 6 CMD 2 1 6 6CMD 3 e6 1 CMDs
110. en Bonnemann MD National Institutes of Health Mary T Durkin Diane True Erin McGurk CMD Cure CMD info curecmd org Diane Smith Hoban curecmd org 49 42
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