X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation.
10.3349/ymj.2011.52.3.547
- Author:
Ji Hyun JEON
1
;
Ran NAMGUNG
;
Min Soo PARK
;
Kook In PARK
;
Chul LEE
;
Jin Sung LEE
;
Se Hoon KIM
Author Information
1. Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
X-linked recessive myotubular myopathy;
Centronuclear myopathy;
Hypotonia;
Polyhydramnios
- MeSH:
*Codon, Nonsense;
Humans;
Male;
Muscle Hypotonia/genetics/pathology;
Myopathies, Structural, Congenital/*genetics/pathology;
Pedigree;
Protein Tyrosine Phosphatases, Non-Receptor/*genetics
- From:Yonsei Medical Journal
2011;52(3):547-550
- CountryRepublic of Korea
- Language:English
-
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.
