Genomes and Genes
Affiliation: University of Helsinki
- Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titinPeter Hackman
Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Am J Hum Genet 71:492-500. 2002....
- Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman
Folkhalsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, PB 63, 00014 Helsinki, Finland
Neuromuscul Disord 18:922-8. 2008..The third was a nonsense mutation g.293379C>T (p.Q33396X) in Mex6. Patients with the upstream Mex5 mutation showed a more severe phenotype with earlier onset implying a genotype-phenotype correlation...
- Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locusPeter Hackman
Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
Neuromuscul Disord 21:338-44. 2011..The linked region was narrowed down from <6.3 to <3.4Mb. Sequencing of the genes in the area is ongoing, aiming to identify the genetic defect...
- Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patientsP Hackman
Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, Finland
Muscle Nerve 31:199-204. 2005....
- Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophiesJaakko Sarparanta
Department of Medical Genetics, Folkhalsan Institute of Genetics, University of Helsinki, 00014 Helsinki, Finland
J Biol Chem 285:30304-15. 2010..The novel interactions indicate a role for myospryn in the sarcomeric M-band and may be relevant for the molecular pathomechanisms of TMD/LGMD2J and LGMD2A...
- Distal myopathy caused by homozygous missense mutations in the nebulin geneCarina Wallgren-Pettersson
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Brain 130:1465-76. 2007..We conclude that homozygous missense mutations in NEB cause a novel distal myopathy, predominantly involving lower leg extensor muscles, finger extensors and neck flexors...
- Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta
Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
Nat Genet 44:450-5, S1-2. 2012....
- Expression of multiple nebulin isoforms in human skeletal muscle and brainJenni Laitila
Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI 00014, Finland
Muscle Nerve 46:730-7. 2012..Multiple isoforms of nebulin are produced from the 183-exon-containing nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy...
- Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)Henna Haravuori
Department of Molecular Medicine, National Public Health Institute, P O Box 104, Fin 00251 Helsinki, Finland
Neuromuscul Disord 14:183-7. 2004..No mutations were identified in the coding sequence...
- Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originAnna H Hakonen
Research Program of Neurosciences, Biomedicum Helsinki, Helsinki, Finland
Am J Hum Genet 77:430-41. 2005....