Hereditary myopathy with early respiratory failure: occurrence in various populations.

doi:10.1136/jnnp-2013-304965

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Article

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2014

Palmio Johanna, Evilä Anni, Chapon Françoise, Tasca Giorgio, Xiang Fengqing, Brådvik Björn, Eymard Bruno, Echaniz-Laguna Andoni, Laporte Jocelyn, Kärppä Mikko, Mahjneh Ibrahim, Quinlivan Rosaline, Laforêt Pascal, Damian Maxwell, Berardo Andres, Taratuto Ana Lia, Bueri Jose Antonio, Tommiska Johanna, Raivio Taneli, Tuerk Matthias, Gölitz Philipp, Chevessier Frederic, Sewry Caroline, Norwood Fiona, Hedberg Carola, Schröder Rolf, Edström Lars, Oldfors Anders, Hackman Peter, Udd Bjarne

Abstract excerpt

OBJECTIVE: Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have remained without genetic cause. This international study was initiated to clarify epidemiology and the genetic underlying cause in these families, and to characterise the phenotype in our large cohort. METHODS: DNA samples of all currently known families with HMERF without molecular genetic...

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PMID: 23606733
DOI: 10.1136/jnnp-2013-304965

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