Expression hémicorporelle d'une myopathie myotubulaire liée à l'X (XLMTM) chez deux des trois femmes conductrices d'une même famille sans cas masculin

Revue Neurologique

Volumn 164, Issue 2, 2008, Pages 169-176

  Drouet, A ^a   Ollagnon Roman, E ^b   Streichenberger, N ^c   Biancalana, V ^d   Cossee M ^d   Guilloton, L ^a   Petiot, P ^b  

^a HIA Desgenettes   (France)

^b CROIX ROUSSE HOSPITAL   (France)

^c CHRU de Strasbourg ^*  (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

MTM1 gene; Symptomatic female carriers; X linked myotubular myopathy (XLMTM)

Indexed keywords

ARGININE; CREATINE KINASE;

ADULT; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; ELECTROMYOGRAPHY; EXON; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HISTOLOGY; HUMAN; MTM1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; X LINKED MYOTUBULAR MYOPATHY; ADOLESCENT; BRAIN; CHROMOSOME DISORDER; DISEASE COURSE; GENETICS; HEMISPHERIC DOMINANCE; MALE; MIDDLE AGED; MYOPATHY; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE; X CHROMOSOME;

ADOLESCENT; ADULT; BRAIN; CARRIER STATE; CHROMOSOMES, HUMAN, X; DISEASE PROGRESSION; FEMALE; FUNCTIONAL LATERALITY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; SEX CHROMOSOME DISORDERS;

EID: 43049146587     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2007.08.008     Document Type: Article

References (21)

1. Barth P.G., and Dubowitz V. X-linked myotubular myopathy. A long-term follow-up study. European Journal of Paediatric Neurology 2 (1998) 49-56
2. Biancalana V., Caron O., Gallati S., et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Human Genetics 112 (2003) 135-142
3. Bitoun M., Maugendre S., Jeannet P.Y., et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nature Genetics 37 (2005) 1207-1209
4. Chanzy S., Routon M.C., Moretti S., De Gennes C., and Mselati J.C. Forme inhabituelle de bon pronostic de la myopathie myotubulaire liée à l'X. Archives of Pediatrie 10 (2003) 707-709
5. Dahl N., Hu L.J., Chery M., Gilgenkrantz S., Nivelon-Chevallier A., and Sidaner-Noisette I. Myotubular myopathy in a girl with deletion at Xq27-q28 and unbalanced X-inactivation assigns the MTM1 gene to 600 kb region. American Journal of Human Genetics 56 (1995) 1108-1115
6. Grogan P.M., Tanner S.M., Orstavik K.H., et al. Myopathy skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. Neurology 64 (2005) 1638-1640
7. Hammans S.R., Robinson D.O., Moutou C., Kennedy C.R., Dennis N.R., Hugues P.J., et al. A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. Neuromuscular Disorders 10 (2000) 133-137
8. Herman G.E., Kopacz K., Zhao W., Mills P.L., Metzenberg A., and Das S. Characterisation of mutations in 50 North American patients with X-linked myotubular myopathy. Human Genetics 19 (2003) 114-121
9. Hoffjan S., Thiels C., Vorgerd M., Neuen-Jacob E., Epplen J.T., and Kreiss W. Extreme phenotypic variability in a german family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscular Disorders 20 (2006) 173-179
10. Jeannet P.Y., Bassez G., Eymard B., et al. Clinical and histologic findings in autosomal centronuclear myopathy. Neurology 62 (2004) 1484-1490
11. Jungbluth H., Sewry C.A., Buj-Bello A., et al. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscular Disorders 13 (2003) 55-59
12. Kristiansen M., Knudsen G.P., Tanner S.M., et al. X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscular Disorders 13 (2003) 468-471
13. Laporte J., Hu L.J., Kretz C., et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genetics 13 (1996) 175-182
14. Mc Entagart M., Parsons G., Buj-Bello A., et al. Genotype-phénotype correlations in X-linked myotubular myopathy. Neuromuscular Disorders 12 (2002) 939-946 on behalf of International Consortium on myotubular lyopathy of ENMC
15. Michell R.H., Heath V.L., Lemmon M.A., and Dove S.K. Phosphatidylinositol 3,5-biphosphate: metabolism and cellular functions. Trends in Biochemical Sciences 31 (2006) 52-63
16. Penisson-Besnier I., Biancalana V., Reynier P., Cossee M., and Dubas F. Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. Neuromuscular Disorders 17 (2007) 180-185
17. Pierson C.R., Tomczak K., Agrawal P., Moghadaszadeh B., and Beggs H. X-linked myotubular and centronuclear myopathies. Journal of Neuropathology and Experimental Neurology 64 (2005) 555-564
18. Schara U., Kress W., Tucke J., and Mortier W. X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. Neurology 60 (2003) 1363-1365
19. Sutton I.J., Winer J.B., Norman A.N., Liechti-Gallati S., and Mc Donald F. Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. Neurology 57 (2001) 900-902
20. Tanner S.M., Orstavik K.H., Kristiansen M., Lev D., Lerman-Sagie T., Sadeh M., et al. Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Human Genetics 104 (1999) 249-253
21. Wallgren-Pettersson C., Clarke A., Samson F., Fardeau M., Dubowitz V., Moser M., et al. The myotubular myopathies: differential diagnosis of the X-linked recessive, autosomal dominant and autosomal recessive forms and present state of DNA studies. Journal of Medical Genetics 32 (1995) 673-679