Centronuclear myopathy
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery. Symptoms of CNM include severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life.
Antisense therapyBill PickelBreech birthCNMCentronuclear myopathy, congenitalCentronuclear myopathy (including myotubular myopathy)Chromosome 19Congenital centronuclear myopathyCongenital myopathyDavid Wood (Christian apologist)ElectromyographyGowers's signHyporeflexiaHypotoniaJean-Louis MandelLipofuscinList of diseases (C)List of diseases (M)List of neurological conditions and disordersMTMMTMR14MYF6Multi/minicore myopathyMuscle biopsyMuscular Dystrophy AssociationMyogenesisMyopathyMyotubular MyopathyMyotubular myopathyNoncompaction cardiomyopathyPat Kelly (American football)Paul Frase1,2-dimethoxyethaanX-linked myotubular myopathyX-linked recessive inheritance
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Centronuclear myopathy
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery. Symptoms of CNM include severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life.
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Centronuclear myopathies (CNM) ...... ies may present later in life.
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Myotubulaire myopathie is een ...... ijmegen in het UMC St Radboud.
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العضال المركزي النواة Centronu ...... ياة (مرحلة الطفولة أو البلوغ).
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DiseasesDB
eMedicine subject
neuro
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eMedicine topic
76
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geneReviewsId
geneReviewsName
X-Linked Centronuclear Myopathy
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ICD10
MeSH ID
OMIM id
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page length (characters) of wiki page
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996,999,448
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7889400.0
DiseasesDB
eMedicineSubj
neuro
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eMedicineTopic
GeneReviewsName
X-Linked Centronuclear Myopathy
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GeneReviewsNBK
NBK1432
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ICD
MeshID
D020914
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name
Centronuclear myopathy
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OMIM
Orphanet
SNOMED CT
82,077,006
synonyms
CNM
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wordnet_type
hypernym
comment
Centronuclear myopathies (CNM) ...... ies may present later in life.
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Myotubulaire myopathie is een ...... myopathie in DNA aan te tonen
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العضال المركزي النواة Centronu ...... يعي المحيطي أو الخارجي السطحي.
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label
Centronuclear myopathy
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Myotubulaire myopathie
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Myotubuläre Myopathie
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العضال مركزي النواة
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sameAs
wasDerivedFrom
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name
Centronuclear myopathy
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