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nemaline myopathy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
TNNT1
TPM3
TPM2
CFL2
ACTA1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
contractile fiber
HALLMARK_MYOGENESIS
CHEMELLO_SOLEUS_VS_EDL_MYOFIBERS_UP
KUNINGER_IGF1_VS_PDGFB_TARGETS_UP
myofibril assembly
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Curated Studies
Most Correlated Studies
Quadriceps muscle of P0 C57BL/6 mice with Klhl40 knockout
Nemaline myopathy mouse model and age-matched controls
OMIM - Myopathies
Mouse Phenotypes - Myopathy
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Intranuclear rods myopathy with autonomic dysfunction.
Recent advances in nemaline myopathy.
Mutations in the nebulin gene in a child with nemaline (rod) myopathy.
Nemaline myopathy with dilated cardiomyopathy in childhood.
Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy.
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Clinical Trials
Most Relevant Clinical Trials
Inspiratory Muscle Training in Nemaline Myopathy
Molecular and Genetic Studies of Congenital Myopathies
Muscle Relaxation in Myopathies With Positive Muscle Phenomena
Treatment of TNNT1-Myopathy With L-Tyrosine.
Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Comp…
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