Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort
about
Pathogenic mechanisms in centronuclear myopathiesRespiratory assessment in centronuclear myopathiesCongenital myopathies: Natural history of a large pediatric cohort.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.Myopathology in times of modern imaging.Hereditary myopathies with early respiratory insufficiency in adults.DNM2 mutations in Chinese Han patients with centronuclear myopathy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Myotonia in DNM2-related centronuclear myopathy.Dynamin-2-associated myopathy with electrical but not clinical myotonia.Abnormal spontaneous activity in primary myopathic disorders.Muscle MRI in pediatrics: clinical, pathological and genetic correlation.Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.Case ofdynamin 2mutation-related sporadic centronuclear myopathy with peripheral neuropathySome DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
P2860
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P2860
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Centronuclear myopathy related ...... features of an Italian cohort
@ast
Centronuclear myopathy related ...... features of an Italian cohort
@en
type
label
Centronuclear myopathy related ...... features of an Italian cohort
@ast
Centronuclear myopathy related ...... features of an Italian cohort
@en
prefLabel
Centronuclear myopathy related ...... features of an Italian cohort
@ast
Centronuclear myopathy related ...... features of an Italian cohort
@en
P2093
P2860
P50
P1476
Centronuclear myopathy related ...... features of an Italian cohort
@en
P2093
Claudio Bruno
Elena Pegoraro
Lucia Morandi
Lucia Ruggiero
Margherita Verardo
Marika Pane
Michela Catteruccia
Valentina Codemo
P2860
P304
P356
10.1016/J.NMD.2012.12.009
P50
P577
2013-02-08T00:00:00Z