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About 46 results

ALLMedicine™ Autosomal Dominant Centronuclear Myopathy Center

Research & Reviews  23 results

Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgeni...
https://doi.org/10.1093/hmg/ddz260
Human Molecular Genetics; Zhao M, Smith L et. al.

Nov 6th, 2019 - Dynamin 2 (DNM2) encodes a ubiquitously expressed large GTPase with membrane fission capabilities that participates in the endocytosis of clathrin-coated vesicles. Heterozygous mutations in DNM2 are associated with two distinct neuromuscular disor...

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277281
Neurotherapeutics : the Journal of the American Society F... Zhao M, Maani N et. al.

Nov 14th, 2018 - Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuro...

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 dominant centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy

Aug 4th, 2015 - Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and sym...

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...

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Clinicaltrials.gov  23 results

Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgeni...
https://doi.org/10.1093/hmg/ddz260
Human Molecular Genetics; Zhao M, Smith L et. al.

Nov 6th, 2019 - Dynamin 2 (DNM2) encodes a ubiquitously expressed large GTPase with membrane fission capabilities that participates in the endocytosis of clathrin-coated vesicles. Heterozygous mutations in DNM2 are associated with two distinct neuromuscular disor...

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277281
Neurotherapeutics : the Journal of the American Society F... Zhao M, Maani N et. al.

Nov 14th, 2018 - Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuro...

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 dominant centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy

Aug 4th, 2015 - Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and sym...

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...

see more →