S M Tanner
Affiliation: The Ohio State University
- Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patientsS M Tanner
Human Molecular Genetics, Department of Clinical Research, Children s Hospital, University of Berne, Switzerland
Neuromuscul Disord 9:41-9. 1999..The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations...
- Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier motherS M Tanner
Department of Clinical Research, Human Molecular Genetics, Children s Hospital, University of Berne, Switzerland
Hum Genet 104:249-53. 1999..Linkage analysis excluded a possible involvement of the XIST locus at Xq13...
- Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 geneS M Tanner
Department of Clinical Research, Human Molecular Genetics, University of Berne, Switzerland
Hum Mutat 11:62-8. 1998..Moreover, pedigree analyses provide first information on de novo mutation frequency in this newly identified human disease gene...
- Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte
IGBMC, CNRS INSERM ULP, Illkirch, France
Hum Mol Genet 6:1505-11. 1997..Additional mutations are missenses clustered in two regions of the protein. Most of these affect amino acids conserved in the homologous yeast and Caenorhabditis elegans proteins, thus indicating the presence of other functional domains...
- Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathyJ Laporte
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, Illkirch, France
Eur J Hum Genet 6:325-30. 1998..We characterised a new polymorphic marker in the immediate vicinity of the gene, which might prove useful for linkage analysis. Sequencing of the TATA-less predicted promoter provides the basis for transcriptional regulatory studies...
- Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutationsP M Grogan
Department of Neurology, Stanford University Medical Center, Palo Alto, CA, USA
Neurology 64:1638-40. 2005..Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families...
- MTM1 mutations in X-linked myotubular myopathyJ Laporte
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
Hum Mutat 15:393-409. 2000..While most truncating mutations cause the severe and early lethal phenotype, some missense mutations are associated with milder forms and prolonged survival (up to 54 years)...
- X-inactivation patterns in carriers of X-linked myotubular myopathyM Kristiansen
Department of Medical Genetics, Institute of Medical Genetics, University of Oslo, Oslo, Norway
Neuromuscul Disord 13:468-71. 2003..Thus, there was a tendency for females with a more severe phenotype to have a skewed pattern of X inactivation, while females with an intermediate phenotype had a random pattern of X-inactivation...