Sabina Liechti-Gallati

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

T. Meitinger, K. Gerbitz, D. Pongratz, 1998, Journal of medical genetics.

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

D. Lev, T. Lerman-Sagie, S. M. Tanner, 1999, Human Genetics.

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

A. Clarke, N. Thomas, S. Liechti‐Gallati, 1990, Journal of Medical Genetics.

A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).

S. Klauck, A. Poustka, B. Korn, 1996, Genomics.

X-linked myotubular myopathy: Refinement of the critical gene region

J. Laporte, W. Kress, N. Dahl, 1996, Neuromuscular Disorders.

X-linked centronuclear myopathy: Mapping the gene to Xq28

E. Boltshauser, W. Kress, T. Grimm, 1991, Neuromuscular Disorders.