Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients-Reference-Cited by-同舟云学术

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Published:2012-11 Issue:11 Volume:22 Page:934-943
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Magri Francesca,Bo Roberto Del,D’Angelo Maria Grazia,Sciacco Monica,Gandossini Sandra,Govoni Alessandra,Napoli Laura,Ciscato Patrizia,Fortunato Francesco,Brighina Erika,Bonato Sara,Bordoni Andreina,Lucchini Valeria,Corti Stefania,Moggio Maurizio,Bresolin Nereo,Comi Giacomo Pietro

Publisher

Elsevier BV

Subject

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

Reference22 articles.

1. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

2. A new distal myopathy with mutation in anoctamin 5;Mahjneh;Neuromuscul Disord,2010

3. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD);Tsutsumi;Am J Hum Genet,2004

4. Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels;Hartzell;J Physiol,2009

5. Anoctamins;Kunzelmann;Pflugers Arch,2011

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