Clinical and histologic findings in autosomal centronuclear myopathy.
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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyMutations in dynamin 2 cause dominant centronuclear myopathyCentronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.Syd/JIP3 and JNK signaling are required for myonuclear positioning and muscle function.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyMuscle biopsy evaluation in neuromuscular disorders.Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortCentronuclear (myotubular) myopathy.Autosomal dominant centronuclear myopathy with unique clinical presentationsClinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.Dynamin 2 and human diseases.Dynamin-2 function and dysfunction along the secretory pathway.Dynamin-2 in nervous system disorders.A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation.Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.Orthoptic and video-oculographic analyses in oculopharyngeal muscular dystrophy.Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutationNoninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy.The Need for a Consensus on the Locution "Central Nuclei" in Striated Muscle Myopathies.RYR1 mutations are a common cause of congenital myopathies with central nuclei.Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesCase ofdynamin 2mutation-related sporadic centronuclear myopathy with peripheral neuropathy
P2860
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P2860
Clinical and histologic findings in autosomal centronuclear myopathy.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Clinical and histologic findings in autosomal centronuclear myopathy.
@ast
Clinical and histologic findings in autosomal centronuclear myopathy.
@en
type
label
Clinical and histologic findings in autosomal centronuclear myopathy.
@ast
Clinical and histologic findings in autosomal centronuclear myopathy.
@en
prefLabel
Clinical and histologic findings in autosomal centronuclear myopathy.
@ast
Clinical and histologic findings in autosomal centronuclear myopathy.
@en
P2093
P1433
P1476
Clinical and histologic findings in autosomal centronuclear myopathy.
@en
P2093
Guicheney P
Jeannet PY
Urtizberea JA
P304
P356
10.1212/01.WNL.0000124388.67003.56
P407
P577
2004-05-01T00:00:00Z