Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations-Reference-Cited by-同舟云学术

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Published:2015-07 Issue:7 Volume:25 Page:533-541
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Savarese Marco,Di Fruscio Giuseppina,Tasca Giorgio,Ruggiero Lucia,Janssens Sandra,De Bleecker Jan,Delpech Marc,Musumeci Olimpia,Toscano Antonio,Angelini Corrado,Sacconi Sabrina,Santoro Lucio,Ricci Enzo,Claes Kathleen,Politano Luisa,Nigro Vincenzo^ORCID

Publisher

Elsevier BV

Subject

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

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3. Muscular dystrophies;Mercuri;Lancet,2013

4. 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

5. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy;Hicks;Brain,2011

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