about
Approach to the diagnosis of congenital myopathiesDigenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathyThe pathogenesis of ACTA1-related congenital fiber type disproportion.Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.Mutations in TPM3 are a common cause of congenital fiber type disproportion.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers.Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models.Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathySkeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Rules of tissue packing involving different cell types: human muscle organizationA fatal case of cor pulmonale with undetected chronic hypoventilation in an infant with a known congenital myopathy.Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.RYR1 mutations are a common cause of congenital myopathies with central nuclei.Actin mutations are one cause of congenital fibre type disproportion.Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.A novel X-linked form of congenital fiber-type disproportion.Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.Predominant fiber atrophy and fiber type disproportion in early ullrich disease.Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations.Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathyCongenital myopathiesCongenital myotonic dystrophy can show congenital fiber type disproportion pathology
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Congenital fiber type disproportion--30 years on.
@ast
Congenital fiber type disproportion--30 years on.
@en
Congenital fiber type disproportion--30 years on.
@nl
type
label
Congenital fiber type disproportion--30 years on.
@ast
Congenital fiber type disproportion--30 years on.
@en
Congenital fiber type disproportion--30 years on.
@nl
prefLabel
Congenital fiber type disproportion--30 years on.
@ast
Congenital fiber type disproportion--30 years on.
@en
Congenital fiber type disproportion--30 years on.
@nl
P2860
P356
P1476
Congenital fiber type disproportion--30 years on.
@en
P2093
Nigel F Clarke
P2860
P304
P356
10.1093/JNEN/62.10.977
P577
2003-10-01T00:00:00Z