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ALLMedicine™ Autosomal Dominant Centronuclear Myopathy Center

Research & Reviews  6 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 7th, 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 15th, 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...

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730838
The Journal of Physiology; Kutchukian C, Szentesi P et. al.

Oct 27th, 2017 - Dynamin 2 is a ubiquitously expressed protein involved in membrane trafficking processes. Mutations in the gene encoding dynamin 2 are responsible for a congenital myopathy associated with centrally located nuclei in the muscle fibres. Using muscl...

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

Aug 7th, 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 5th, 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...

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