Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital
myopathies characterised by muscle weakness and specific skeletal muscle structural …
myopathies characterised by muscle weakness and specific skeletal muscle structural …
Recent advances in nemaline myopathy
NB Romero, SA Sandaradura… - Current opinion in …, 2013 - journals.lww.com
Recent advances in nemaline myopathy : Current Opinion in Neurology Recent advances in
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Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
The congenital myopathies are a group of inherited neuromuscular disorders mainly defined
on the basis of characteristic histopathological features. We analysed 66 patients assessed …
on the basis of characteristic histopathological features. We analysed 66 patients assessed …
Cardiac α-actin over-expression therapy in dominant ACTA1 disease
G Ravenscroft, E McNamara, LM Griffiths… - Human molecular …, 2013 - academic.oup.com
More than 200 mutations in the skeletal muscle α-actin gene (ACTA1) cause either dominant
or recessive skeletal muscle disease. Currently, there are no specific therapies. Cardiac α …
or recessive skeletal muscle disease. Currently, there are no specific therapies. Cardiac α …
Combined MRI and 31P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy …
C Gineste, Y Le Fur, C Vilmen, A Le Troter, E Pecchi… - PLoS …, 2013 - journals.plos.org
Nemaline myopathy (NM) is the most common disease entity among non-dystrophic skeletal
muscle congenital diseases. Mutations in the skeletal muscle α-actin gene (ACTA1) account …
muscle congenital diseases. Mutations in the skeletal muscle α-actin gene (ACTA1) account …
Multimodal MRI and 31P-MRS Investigations of the ACTA1(Asp286Gly) Mouse Model of Nemaline Myopathy Provide Evidence of Impaired In Vivo Muscle Function …
C Gineste, G Duhamel, Y Le Fur, C Vilmen… - PloS one, 2013 - journals.plos.org
Nemaline myopathy (NM), the most common non-dystrophic congenital disease of skeletal
muscle, can be caused by mutations in the skeletal muscle α-actin gene (ACTA1)(~ 25% of …
muscle, can be caused by mutations in the skeletal muscle α-actin gene (ACTA1)(~ 25% of …
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 …
L Levesque, MR Del Bigio, S Krawitz… - Neuromuscular Disorders, 2013 - Elsevier
We describe the presentation and six-year follow up of a child with nemaline myopathy due
to a de novo mutation in the skeletal muscle α-actin gene (ACTA1) characterized by …
to a de novo mutation in the skeletal muscle α-actin gene (ACTA1) characterized by …
Treatability of sporadic late onset nemaline myopathy
F Hanisch, I Schneider, T Müller, BF Romeike… - Der Nervenarzt, 2013 - Springer
Die „sporadic late onset nemaline myopathy “(SLONM) ist eine extrem seltene Erkrankung,
die mit einer monoklonalen Gammopathie unklarer Signifikanz (MGUS) assoziiert sein kann …
die mit einer monoklonalen Gammopathie unklarer Signifikanz (MGUS) assoziiert sein kann …
Behandelbarkeit der'sporadic late onset nemaline myopathy'.
F Hanisch, I Schneider, T Müller, BF Romeike… - Der …, 2013 - search.ebscohost.com
English Sporadic late onset nemaline myopathy (SLONM) is an extremely rare disorder
which can be associated with monoclonal gammopathy of unclear significance (MGUS) …
which can be associated with monoclonal gammopathy of unclear significance (MGUS) …
Thin Filament Proteins: Nemaline and Related Congenital Myopathies
The sarcomeric thin filament is a complex structure with a number of structural and
enzymatic components that are essential for skeletal muscle function. Mutations in …
enzymatic components that are essential for skeletal muscle function. Mutations in …