Results 21 to 30 of about 25,797 (180)

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

Neuromuscular Disorders, 2007
Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B).
Anne-Sophie Nicot, Jocelyn Laporte, Christine Tranchant   +2 more
exaly   +2 more sources

N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

EMBO Molecular Medicine, 2014
Mutations in amphiphysin‐2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads.
Karim Hnia, David Sassoon, Jocelyn Laporte   +2 more
exaly   +2 more sources

A Case of Adult-Onset Centronuclear Myopathy

Yonsei Medical Journal, 2004
Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Based on the time of onset and the mode of inheritance, CNM can be divided into three distinct forms: the severe neonatal form, the childhood onset form, and the adult onset form.
Sang-Jun, Na, Tai-Seung, Kim, Young-Chul, Choi   +2 more
openaire   +4 more sources

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. [PDF]

Sci Rep, 2019
International audienceDynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most ...
Fongy A, Falcone S, Lainé J, Prudhon B, Martins-Bach A, Bitoun M.   +5 more
europepmc   +2 more sources

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. [PDF]

Proc Natl Acad Sci U S A, 2018
Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no effective therapy is currently available. We have previously shown that reduction of the large GTPase DNM2 in a mouse model of the X-linked form, due to loss of ...
Buono S, Ross JA, Tasfaout H, Levy Y, Kretz C, Tayefeh L, Matson J, Guo S, Kessler P, Monia BP, Bitoun M, Ochala J, Laporte J, Cowling BS.   +13 more
europepmc   +2 more sources

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Neuromuscular Disorders, 2010
Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but More severe variants have been associated with Mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of ...
Heinz Jungbluth, Francesco Muntoni, Suzanne Lillis   +2 more
exaly   +2 more sources

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Neuromuscular Disorders, 2017
International audienceMutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia.
Payam Mohassel, Brenda L Banwell, Sandra Donkervoort   +2 more
exaly   +2 more sources

Centronuclear myopathy in a Border collie dog

Journal of Small Animal Practice, 2012
A two‐year old, male entire Border collie was presented with a one‐year history of exercise‐induced collapsing on the pelvic limbs. Physical examination revealed generalised muscle atrophy. Neurological examination supported a generalised neuromuscular disorder. Electromyography revealed spontaneous electrical activity in almost all muscles.
Eminaga S., Cherubini G. B., Shelton G. D.   +2 more
openaire   +4 more sources

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands [PDF]

Clinical Genetics, 2021
Erik-jan Kamsteeg, Baziel van Engelen, Anneke van der Kooi   +2 more
exaly   +2 more sources

Novel SPEG variant cause centronuclear myopathy in China [PDF]

Journal of Clinical Laboratory Analysis, 2020
Peng Gao Gao, Jia Tang, Víctor W Zhang
exaly   +2 more sources