MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)

Known as: Multiminicore Myopathy, Multi-Minicore Disease, Multiminicore Disease 
Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. [HPO:probinson]
National Institutes of Health

Topic mentions per year

Topic mentions per year

1982-2016
01219822016

Papers overview

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2016
2016
INTRODUCTION Multiminicore disease is a congenital myopathy characterized pathologically by the presence of multiple minicore… (More)
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Review
2011
Review
2011
The core myopathies, Central Core Disease and Multiminicore Disease, are heterogeneous congenital myopathies with the common… (More)
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2008
2008
Skeletal muscle excitation-contraction coupling involves activation of homotetrameric ryanodine receptor ion channels (RyR1s… (More)
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2008
2008
BACKGROUND AND PURPOSE At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and… (More)
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Review
2007
Review
2007
  • Genetics in Medicine
  • 2007
■ SCN2A-Related Febrile Seizures Associated with Afebrile Seizures Turkey ■ Pulmonary Alveolar Microlithiasis United Kingdom… (More)
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2005
2005
BACKGROUND Minicore myopathy (multi-minicore disease [MmD]) is a congenital myopathy characterized by multifocal areas with loss… (More)
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1988
1988
Four patients with Multicore Myopathy, a rare morphologically distinct myopathy, are described. Although previously considered to… (More)
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1987
1987
Minicore disease (multicore disease) is a benign myopathy characterized by segmental muscle fibre degeneration with disruption of… (More)
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1982
1982
A case of minicore diseases (MCD) detected in a 10-year-old boy was reported and the nosological entity of this “myopathy… (More)
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