POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations-Reference-Cited by-同舟云学术

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Published:2014-06-11 Issue:21 Volume:23 Page:5781-5792
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Di Costanzo Stefania,Balasubramanian Anuradha,Pond Heather L.,Rozkalne Anete,Pantaleoni Chiara,Saredi Simona,Gupta Vandana A.,Sunu Christine M.,Yu Timothy W.,Kang Peter B.,Salih Mustafa A.,Mora Marina,Gussoni Emanuela,Walsh Christopher A.,Manzini M. Chiara

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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5. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene;Neuromuscular Disord.,2005

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