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ALLMedicine™ Autosomal Recessive Centronuclear Myopathy Center

Research & Reviews  7 results

Centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy

Aug 6th, 2015 - Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Ce...

Autosomal recessive centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/12718/autosomal-recessive-centronuclear-myopathy

Aug 5th, 2015 - Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms du...

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
https://doi.org/10.1093/brain/awu272
Brain : a Journal of Neurology; Böhm J, Biancalana V et. al.

Sep 27th, 2014 - Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal r...

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049309
Human Molecular Genetics; Smith LL, Gupta VA et. al.

Feb 19th, 2014 - Autosomal recessive centronuclear myopathy (CNM2), caused by mutations in bridging integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centralized myonuclei and muscle weakness. BIN1 is important for mem...

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progre...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675003
PLoS Genetics; Böhm J, Vasli N et. al.

Jun 11th, 2013 - Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...

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Clinicaltrials.gov  7 results

Centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy

Aug 6th, 2015 - Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Ce...

Autosomal recessive centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/12718/autosomal-recessive-centronuclear-myopathy

Aug 5th, 2015 - Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms du...

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
https://doi.org/10.1093/brain/awu272
Brain : a Journal of Neurology; Böhm J, Biancalana V et. al.

Sep 27th, 2014 - Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal r...

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049309
Human Molecular Genetics; Smith LL, Gupta VA et. al.

Feb 19th, 2014 - Autosomal recessive centronuclear myopathy (CNM2), caused by mutations in bridging integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centralized myonuclei and muscle weakness. BIN1 is important for mem...

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progre...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675003
PLoS Genetics; Böhm J, Vasli N et. al.

Jun 11th, 2013 - Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...

see more →