Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers-Reference-Cited by-同舟云学术

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Published:2016-04 Issue:4-5 Volume:26 Page:292-299
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Savarese Marco,Musumeci Olimpia,Giugliano Teresa,Rubegni Anna,Fiorillo Chiara,Fattori Fabiana,Torella Annalaura,Battini Roberta,Rodolico Carmelo,Pugliese Aniello,Piluso Giulio,Maggi Lorenzo,D'Amico Adele,Bruno Claudio,Bertini Enrico,Santorelli Filippo Maria,Mora Marina,Toscano Antonio,Minetti Carlo,Nigro Vincenzo

Funder

Telethon, Italy

Telethon-UILDM (Unione Italiana Lotta alla Distrofia Muscolare)

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

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4. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations;Bohm;Brain,2014

5. RYR1 mutations are a common cause of congenital myopathies with central nuclei;Wilmshurst;Ann Neurol,2010

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