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Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1

, : Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscular Disorders 16(11): 749-753

X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder caused by mutations in the MTM1 gene. Affected males usually present at birth with severe hypotonia and respiratory insufficiency, and most of them die within the first few years of life. We report here on a 68-year-old patient with a very mild form of the disease who was diagnosed after his grandson showed muscular weakness and respiratory problems at birth. The E404K mutation in the MTM1 gene was found in both patients. To our knowledge, this grandfather is one of the oldest and most mildly affected known patients with an MTM1 mutation to date. Thus, this family represents a remarkable phenotypic variation of XLMTM ranging from a congenital to a mild adult form.


PMID: 17005396

DOI: 10.1016/j.nmd.2006.07.020

Other references

Job, H.; Huebner, F.; Berndt, R., 1994: Rupture of uterus in the 22nd pregnancy week caused by placenta percreta. The placenta percreta is a rare event in pregnancy. A case of spontaneous rupture of the uterus in the 22nd week caused by placenta percreta (verified by histological examination) is described. Causal facts and therapeutic aspects are discussed.

Thomson, C.; Duncan, A., 1982: Glutathione peroxidase and selenium status. Proceedings symposium on Trace element metabolism in man and animals: ub 1982) (4th) 22-25

Lee, S.; Kong, D.H.; Yun, S.H.; Lee, K.R.; Lee, K.P.; Franzblau, S.G.; Lee, E.Y.; Chang, C.L., 2006: Evaluation of a modified antimycobacterial susceptibility test using Middlebrook 7H10 agar containing 2,3-diphenyl-5-thienyl-(2)-tetrazolium chloride. A rapid and accurate antimycobacterial susceptibility test is essential for effective treatment of tuberculosis. The aim of this study was to evaluate a modified method applying 2,3-diphenyl-5-thienyl-(2)-tetrazolium chloride (STC) to the Clinical...

Braune, P.; Schmidt, S.; Zimmermann, E., 2003: First evidence for a gathering call in a nocturnal solitary ranging primate. Folia Primatologica 74(4): 185, September

Shulman A.G.; Berci G., 1985: Intraoperative biliary endoscopy choledochoscopy in california usa hospitals. American Journal of Surgery 149(6): 703-704

Nishiwaki, M.; Hibiya, T., 1952: On the sexual maturity of the sperm whale (Physeter catodon) found in the adjacent waters of Japan. (II). Scientific Reports of the Whales Research Institute Tokyo, 7: 121-124

Mimura, J.; Yamashita, K.; Nakamura, K.; Morita, M.; Takagi, T., N.; Nakao, K.; Ema, M.; Sogawa, K.; Yasuda, M.; Katsuki, M.; Fujii-Kiriyama, Y., 1997: Loss of teratogenic response to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in mice lacking the Ah (dioxin) receptor. Background: The aryl hydrocarbon receptor (AhR or dioxin receptor) is a ligand-activated transcription factor that is considered to mediate pleiotropic biological responses such as teratogenesis, tumour promotion, epithelial hyperplasia and the in...

Hashimoto, Y.; Schworer, C.M.; Colbran, R.J.; Soderling, T.R., 1987: Autophosphorylation of Ca2+/calmodulin-dependent protein kinase II. Effects on total and Ca2+-independent activities and kinetic parameters. Incubation of purified rat brain Ca2+/calmodulin-dependent protein kinase II for 2 min in the presence of Ca2+, calmodulin (CaM), Mg2+, and ATP converted the kinase from a completely Ca2+-dependent kinase to a substantially Ca2+-independent form w...

Tappel, A.L., 1973: Lipid peroxidation damage to cell components. Federation Proceedings 32(8): 1870-1874

Weaver, D.L.; Ashikaga, T.; Krag, D.N.; Skelly, J.M.; Anderson, S.J.; Harlow, S.P.; Julian, T.B.; Mamounas, E.P.; Wolmark, N., 2011: Effect of occult metastases on survival in node-negative breast cancer. Retrospective and observational analyses suggest that occult lymph-node metastases are an important prognostic factor for disease recurrence or survival among patients with breast cancer. Prospective data on clinical outcomes from randomized trial...