Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsCalcium Dyshomeostasis in Tubular Aggregate MyopathyInborn errors of energy metabolism associated with myopathies.Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.Tubular aggregate myopathy: a case reportCentronuclear (myotubular) myopathy.Endosomal phosphoinositides and human diseases.Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Centronuclear myopathies under attack: A plethora of therapeutic targetsAllele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
P921
Q26773024-90EC8EAC-28FC-4F27-8267-1E25450B350DQ28078298-12B644C5-083B-4193-8B28-D87F02722BBDQ33879587-08EC6410-41A2-4A42-A391-749EEA2A6CD0Q34461438-DA522161-4524-4B0D-8D60-206AD3444766Q35067335-A45BA468-00E3-45DE-8586-40D985743B96Q36948074-D5D55F2D-5CC7-49C7-BFF0-3733CA06259FQ37024588-024C2E55-3568-425D-A1FC-AAE5D1D252CBQ37289753-152CCF56-6683-47F3-A5B4-46D6E940EB3EQ38749264-2AFDA4FC-5C68-4C7E-AB44-3C5E7B9793C2Q58713722-F52116A4-A47A-4C45-B89B-7703DCD6B524Q64096580-17DD9F95-50BE-4342-A2BF-4CCAA9FF49DE
P921
description
maladie
@fr
myopathy characterized by abnormally located nuclei in skeletal muscle cells
@en
name
centronuclear myopathy
@en
miopatía centronuclear
@es
myopathie centronucléaire
@fr
myotubulaire myopathie
@nl
myotubuläre Myopathie
@de
العضال مركزي النواة
@ar
type
label
centronuclear myopathy
@en
miopatía centronuclear
@es
myopathie centronucléaire
@fr
myotubulaire myopathie
@nl
myotubuläre Myopathie
@de
العضال مركزي النواة
@ar
altLabel
CNM
@en
Myopathy, myotubular
@en
miopatia centronuclear
@es
miopatia miotubular
@es
miopatía miotubular
@es
myotubular myopathy
@en
prefLabel
centronuclear myopathy
@en
miopatía centronuclear
@es
myopathie centronucléaire
@fr
myotubulaire myopathie
@nl
myotubuläre Myopathie
@de
العضال مركزي النواة
@ar
P1550
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Centronuclear myopathy
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P5270
MONDO:0018947
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P6366
2778100411