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Congenital muscular dystrophy merosin-positive

MedGen UID:
322832
Concept ID:
C1836133
Disease or Syndrome
Synonym: Muscular Dystrophy, Congenital, Merosin-Positive

Professional guidelines

PubMed

Klein A, Clement E, Mercuri E, Muntoni F
Eur J Paediatr Neurol 2008 Sep;12(5):371-7. Epub 2007 Dec 3 doi: 10.1016/j.ejpn.2007.10.002. PMID: 18588847

Recent clinical studies

Etiology

Ceviz N, Alehan F, Alehan D, Ozme S, Akçören Z, Kale G, Topaloglu H
Int J Cardiol 2003 Feb;87(2-3):129-33; discussion 133-4. doi: 10.1016/s0167-5273(02)00320-0. PMID: 12559529
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485
Mercuri E, Anker S, Philpot J, Sewry C, Dubowitz V, Muntoni F
Pediatr Neurol 1998 May;18(5):399-401. doi: 10.1016/s0887-8994(97)00222-1. PMID: 9650678
Nonaka I, Kobayashi O, Osari S
Semin Pediatr Neurol 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. PMID: 8795845
Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V
J Child Neurol 1995 Nov;10(6):472-5. doi: 10.1177/088307389501000610. PMID: 8576559

Diagnosis

Fadiloglu E, Ozten G, Unal C, Talim B, Topaloglu H, Beksac MS
Fetal Pediatr Pathol 2018 Dec;37(6):418-423. Epub 2018 Oct 25 doi: 10.1080/15513815.2018.1520944. PMID: 30358464
Talim B, Kale G, Topaloglu H, Akçören Z, Caglar M, Gögüş S, Elkay M
Pediatr Dev Pathol 2000 Mar-Apr;3(2):168-76. doi: 10.1007/s100240050021. PMID: 10679036
Mercuri E, Anker S, Philpot J, Sewry C, Dubowitz V, Muntoni F
Pediatr Neurol 1998 May;18(5):399-401. doi: 10.1016/s0887-8994(97)00222-1. PMID: 9650678
Nonaka I, Kobayashi O, Osari S
Semin Pediatr Neurol 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. PMID: 8795845
Philpot J, Sewry C, Pennock J, Dubowitz V
Neuromuscul Disord 1995 Jul;5(4):301-5. doi: 10.1016/0960-8966(94)00069-l. PMID: 7580243

Prognosis

Ferreira LG, Marie SK, Liu EC, Resende MB, Carvalho MS, Scaff M, Reed UC
Arq Neuropsiquiatr 2005 Sep;63(3B):791-800. Epub 2005 Oct 18 doi: 10.1590/s0004-282x2005000500014. PMID: 16258658
Ceviz N, Alehan F, Alehan D, Ozme S, Akçören Z, Kale G, Topaloglu H
Int J Cardiol 2003 Feb;87(2-3):129-33; discussion 133-4. doi: 10.1016/s0167-5273(02)00320-0. PMID: 12559529
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485
Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G
Neuropediatrics 1999 Feb;30(1):22-8. doi: 10.1055/s-2007-973452. PMID: 10222457
Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688

Clinical prediction guides

Quijano-Roy S, Renault F, Romero N, Guicheney P, Fardeau M, Estournet B
Muscle Nerve 2004 Feb;29(2):292-9. doi: 10.1002/mus.10544. PMID: 14755496
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485
Mercuri E, Anker S, Philpot J, Sewry C, Dubowitz V, Muntoni F
Pediatr Neurol 1998 May;18(5):399-401. doi: 10.1016/s0887-8994(97)00222-1. PMID: 9650678
Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R
Neurology 1996 Mar;46(3):810-14. doi: 10.1212/wnl.46.3.810. PMID: 8618688
Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V
Neuromuscul Disord 1995 Jul;5(4):307-16. doi: 10.1016/0960-8966(94)00072-h. PMID: 7580244

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