Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
about
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyNebulin interactions with actin and tropomyosin are altered by disease-causing mutations.Mutation update: the spectra of nebulin variants and associated myopathies.Clinical utility gene card for: nemaline myopathyClinical utility gene card for: Nemaline myopathy - update 2015.Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.Expression of multiple nebulin isoforms in human skeletal muscle and brain.NEB-related core-rod myopathy with distinct clinical and pathological features.The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.Molecular Genetics of Nemaline Myopathy
P2860
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P2860
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
description
article
@en
im August 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2011
@uk
name
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@en
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@nl
type
label
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@en
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@nl
prefLabel
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@en
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@nl
P2093
P50
P1476
Nemaline myopathy caused by mu ...... y present as a distal myopathy
@en
P2093
Agnes Herczegfalvi
Angela Huebner
Carina Wallgren-Pettersson
Jean François Pellissier
Jean Pouget
Jerôme Franques
Maja von der Hagen
Veronika Karcagi
P304
P356
10.1016/J.NMD.2011.05.012
P577
2011-08-01T00:00:00Z