Cited 4 times in
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김세훈 | - |
dc.contributor.author | 남궁란 | - |
dc.contributor.author | 박국인 | - |
dc.contributor.author | 박민수 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 이철 | - |
dc.date.accessioned | 2014-12-20T17:04:11Z | - |
dc.date.available | 2014-12-20T17:04:11Z | - |
dc.date.issued | 2011 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/93903 | - |
dc.description.abstract | X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 547~550 | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Codon, Nonsense* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Muscle Hypotonia/genetics | - |
dc.subject.MESH | Muscle Hypotonia/pathology | - |
dc.subject.MESH | Myopathies, Structural, Congenital/genetics* | - |
dc.subject.MESH | Myopathies, Structural, Congenital/pathology | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Protein Tyrosine Phosphatases, Non-Receptor/genetics* | - |
dc.title | X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | Ji Hyun Jeon | - |
dc.contributor.googleauthor | Ran Namgung | - |
dc.contributor.googleauthor | Min Soo Park | - |
dc.contributor.googleauthor | Kook In Park | - |
dc.contributor.googleauthor | Chul Lee | - |
dc.contributor.googleauthor | Jin Sung Lee | - |
dc.contributor.googleauthor | Se Hoon Kim | - |
dc.identifier.doi | 10.3349/ymj.2011.52.3.547 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A00610 | - |
dc.contributor.localId | A01241 | - |
dc.contributor.localId | A01438 | - |
dc.contributor.localId | A01468 | - |
dc.contributor.localId | A03253 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 21488203 | - |
dc.subject.keyword | X-linked recessive myotubular myopathy | - |
dc.subject.keyword | Centronuclear myopathy | - |
dc.subject.keyword | Hypotonia | - |
dc.subject.keyword | Polyhydramnios | - |
dc.contributor.alternativeName | Kim, Se Hoon | - |
dc.contributor.alternativeName | Namgung, Ran | - |
dc.contributor.alternativeName | Park, Kook In | - |
dc.contributor.alternativeName | Park, Min Soo | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.alternativeName | Lee, Chul | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | Kim, Se Hoon | - |
dc.contributor.affiliatedAuthor | Namgung, Ran | - |
dc.contributor.affiliatedAuthor | Park, Kook In | - |
dc.contributor.affiliatedAuthor | Park, Min Soo | - |
dc.contributor.affiliatedAuthor | Lee, Chul | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 52 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 547 | - |
dc.citation.endPage | 550 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.52(3) : 547-550, 2011 | - |
dc.identifier.rimsid | 28536 | - |
dc.type.rims | ART | - |
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