A Novel Autosomal Dominant Inclusion Body Myopathy Linked to 7q22.1-31.1
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference28 articles.
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2. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.;I Nishino;Neurology,2002
3. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.;SH Horowitz;Muscle Nerve,1994
4. Linkage of hereditary distal myopathy with desmin accumulation to 2q.;CA Saavedra-Matiz;Hum Hered,2000
5. Missense mutations in desmin associated with familial cardiac and skeletal myopathy.;LG Goldfarb;Nat Genet,1998
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1. Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis;Frontiers in Neuroscience;2018-05-22
2. Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29;Scientific Reports;2016-05
3. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene;Brain;2013-03-29
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