Related references
Note: Only part of the references are listed.Mutations in TPM3 are a common cause of congenital fiber type disproportion
Nigel F. Clarke et al.
ANNALS OF NEUROLOGY (2008)
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation:: A clinical and pathological study
Isabelle Penisson-Besnier et al.
NEUROMUSCULAR DISORDERS (2007)
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
Pankaj B. Agrawal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
William Wallefeld et al.
NEUROMUSCULAR DISORDERS (2006)
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
Adele D'Amico et al.
NEUROMUSCULAR DISORDERS (2006)
The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders
AG Compton et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
An alpha-Tropomyosin mutation alters dimer preference in nemaline myopathy
MA Corbett et al.
ANNALS OF NEUROLOGY (2005)
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
B Ilkovski et al.
HUMAN MOLECULAR GENETICS (2004)
Tropomodulin contains two actin filament pointed end-capping domains
VM Fowler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Single section Western blot - Improving the molecular diagnosis of the muscular dystrophies
ST Cooper et al.
NEUROLOGY (2003)
Clinical course correlates poorly with muscle pathology in nemaline myopathy
MM Ryan et al.
NEUROLOGY (2003)
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy
HJ Durling et al.
NEUROMUSCULAR DISORDERS (2002)
Skeletal muscle of mice with a mutation in slow α-tropomyosin is weaker at lower lengths
A de Haan et al.
NEUROMUSCULAR DISORDERS (2002)
Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy
D Wattanasirichaigoon et al.
NEUROLOGY (2002)
Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin
NJ Greenfield et al.
BIOPHYSICAL JOURNAL (2002)
Nemaline myopathy: A clinical study of 143 cases
MM Ryan et al.
ANNALS OF NEUROLOGY (2001)
Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments
D Sanoudou et al.
TRENDS IN MOLECULAR MEDICINE (2001)
Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene
B Ilkovski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A mutation in α-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
MA Corbett et al.
HUMAN MOLECULAR GENETICS (2001)
The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments
AS McElhinny et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation
J Moraczewska et al.
BIOPHYSICAL JOURNAL (2000)
Tropomyosin 3 increases striated muscle isoform diversity
K Pieples et al.
BIOCHEMISTRY (2000)