Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter, Jesse M; Ahearn, Mary Ellen; Balak, Christopher D; Liang, Winnie S; Kurdoglu, Ahmet; Corneveaux, Jason J; Russell, Megan; Huentelman, Matthew J; Craig, David W; Carpten, John; Coons, Stephen W; DeMello, Daphne E; Hall, Judith G; Bernes, Saunder M; Baumbach-Reardon, Lisa.
Mol Genet Genomic Med
; 3(4): 283-301, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26247046
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.
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New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Contractures and muscle disease.