Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Author:

Hackman Peter1,Sarparanta Jaakko1,Lehtinen Sara1,Vihola Anna1,Evilä Anni1,Jonson Per Harald1,Luque Helena1,Kere Juha,Screen Mark1,Chinnery Patrick F.2,Åhlberg Gabrielle3,Edström Lars3,Udd Bjarne

Affiliation:

1. Folkhälsan Institute of Genetics and Department of Medical Genetics; Haartman Institute, University of Helsinki; Helsinki; Finland

2. Institute of Genetic Medicine; Newcastle University; Newcastle upon Tyne; United Kingdom

3. Department of Clinical Neuroscience; Karolinska Hospital; Stockholm; Sweden

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference45 articles.

1. Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees;Welander;Acta Med Scand Suppl,1951

2. Welander distal myopathy outside the swedish population: phenotype and genotype;Tell;Neuromuscul Disord,2002

3. Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies;Åhlberg;Neuromuscul Disord,1998

4. Welander distal myopathy-an overview;Borg;Neuromuscul Disord,1998

5. Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander);Edström;J Neurol Sci,1975

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