Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
about
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patientsA novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.Clinical utility gene card for: Nemaline myopathy - update 2015.Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye.TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations.Analysis of biophysical and functional consequences of tropomyosin-fluorescent protein fusions.Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.NEB-related core-rod myopathy with distinct clinical and pathological features.
P2860
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P2860
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
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
Novel deletion of lysine 7 exp ...... um of TPM2-related myopathies.
@ast
Novel deletion of lysine 7 exp ...... um of TPM2-related myopathies.
@en
type
label
Novel deletion of lysine 7 exp ...... um of TPM2-related myopathies.
@ast
Novel deletion of lysine 7 exp ...... um of TPM2-related myopathies.
@en
prefLabel
Novel deletion of lysine 7 exp ...... um of TPM2-related myopathies.
@ast
Novel deletion of lysine 7 exp ...... um of TPM2-related myopathies.
@en
P2093
P2860
P356
P1433
P1476
Novel deletion of lysine 7 exp ...... rum of TPM2-related myopathies
@en
P2093
Andria Merrison
Angela Hubner
Anirban Majumdar
Ann E Davidson
Brian E Moore
Corrine O Smith
Donald E Born
Elizabeth Curtis
Fazeel M Siddiqui
Helen Roper
P2860
P304
P356
10.1093/BRAIN/AWS344
P407
P577
2013-02-01T00:00:00Z