Document Detail


Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.
MedLine Citation:
PMID:  16583589     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypotonia since birth or in early life. It is heterogeneous and can be caused by various central nervous system disorders, neuromuscular diseases and genetic disorders. X-linked myotubular myopathy (XMTM) is a progressive congenital myopathy morphologically characterized by the presence of centrally placed nuclei in numerous muscle fibers without any other particular pathological abnormalities. Patients are frequently born with floppiness and respiratory distress. The vast majority of patients carry a truncating or missense mutation in MTM1. The authors report here a full term male baby with clinicopathological features of XMTM. The diagnosis is validated by the finding of a c. 141-144delAGAA mutation ofMTM1. To the best of the authors' knowledge, the present case is the first genetically confirmed XMTM in Thailand. A brief review of various neuromuscular disorders causing floppy infant syndrome is also included.
Authors:
Teerin Liewluck; Natte Raksadawan; Chanin Limwongse; Ichizo Nishino; Tumtip Sangruchi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Medical Association of Thailand = Chotmaihet thangphaet     Volume:  89     ISSN:  0125-2208     ISO Abbreviation:  J Med Assoc Thai     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-04-04     Completed Date:  2006-05-10     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7507216     Medline TA:  J Med Assoc Thai     Country:  Thailand    
Other Details:
Languages:  eng     Pagination:  99-105     Citation Subset:  IM    
Affiliation:
Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, X*
DNA Mutational Analysis
Genetic Diseases, X-Linked / diagnosis,  ethnology,  genetics*
Humans
Infant, Newborn
Male
Myopathies, Structural, Congenital / diagnosis,  genetics*,  pathology
Pedigree
Protein Tyrosine Phosphatases / genetics*
Protein Tyrosine Phosphatases, Non-Receptor
Thailand
Chemical
Reg. No./Substance:
EC 3.1.3.48/Protein Tyrosine Phosphatases; EC 3.1.3.48/Protein Tyrosine Phosphatases, Non-Receptor; EC 3.1.3.48/myotubularin

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