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注意：仅列出部分参考文献，下载原文获取全部文献信息。Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion
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Centronuclear myopathies: A widening concept
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Progressive muscle biopsies morphological changes in long-term follow-up of multiminicore disease related to RYR1 gene
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First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia
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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
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Pathological defects in congenital myopathies
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JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY (2008)
King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene
C. E. D'Arcy et al.
NEUROLOGY (2008)
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
K. G. Claeys et al.
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Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation
I. Sato et al.
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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Anne-Sophie Nicot et al.
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Molecular mechanisms and phenotypic variation in RYRI=related congenital myopathies
Haiyan Zhou et al.
BRAIN (2007)
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
Heinz Jungbluth et al.
NEUROMUSCULAR DISORDERS (2007)
A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction
Takashi Kimura et al.
BIOCHEMICAL JOURNAL (2007)
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
Haiyan Zhou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Towards the identification of new morphological subtypes of congenital myopathy
J. A. Bevilacqua et al.
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Characterization of recessive RYR1 mutations in core myopathies
Haiyan Zhou et al.
HUMAN MOLECULAR GENETICS (2006)
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
H Jungbluth et al.
NEUROLOGY (2005)
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun et al.
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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
N Monnier et al.
HUMAN MOLECULAR GENETICS (2003)
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
MR Davis et al.
NEUROMUSCULAR DISORDERS (2003)
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia
NB Romero et al.
BRAIN (2003)
Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1)
GG Du et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
The spectrum of pathology in central core disease
CA Sewry et al.
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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
H Jungbluth et al.
NEUROLOGY (2002)
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
A Ferreiro et al.
ANNALS OF NEUROLOGY (2002)
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
N Monnier et al.
HUMAN MOLECULAR GENETICS (2001)
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
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HUMAN MOLECULAR GENETICS (2000)
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