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Congenital myopathies: clinical phenotypes and new diagnostic tools
D Cassandrini, R Trovato, A Rubegni, S Lenzi… - Italian journal of …, 2017 - Springer
Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …
Role of autophagy in muscle disease
A Franco-Romero, M Sandri - Molecular aspects of medicine, 2021 - Elsevier
Beside inherited muscle diseases many catabolic conditions such as insulin resistance,
malnutrition, cancer growth, aging, infections, chronic inflammatory status, inactivity, obesity …
malnutrition, cancer growth, aging, infections, chronic inflammatory status, inactivity, obesity …
Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization
S Vassilopoulos, C Gentil, J Lainé, PO Buclez… - Journal of Cell …, 2014 - rupress.org
Abbreviations used in this paper: AP, adaptor protein; CCV, clathrin-coated vesicle; CHC,
clathrin heavy chain; CLC, clathrin light chain; CNM, centronuclear myopathy; DNM2 …
clathrin heavy chain; CLC, clathrin light chain; CNM, centronuclear myopathy; DNM2 …
[HTML][HTML] Leishmania donovani targets Dicer1 to downregulate miR-122, lower serum cholesterol, and facilitate murine liver infection
Leishmania donovani causes visceral leishmaniasis (VL) where the parasite infects and
resides inside liver and spleen tissue macrophages. Given the abnormal lipid profile …
resides inside liver and spleen tissue macrophages. Given the abnormal lipid profile …
[HTML][HTML] Common pathogenic mechanisms in centronuclear and myotubular myopathies and latest treatment advances
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …
weakness and structural defects including fiber hypotrophy and organelle mispositioning …
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
BS Cowling, T Chevremont, I Prokic, C Kretz… - The Journal of clinical …, 2014 - jci.org
Centronuclear myopathies (CNM) are congenital disorders associated with muscle
weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of …
weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of …
Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy
MicroRNAs modulate cellular phenotypes by inhibiting expression of mRNA targets. In this
study, we have shown that the muscle-specific microRNAs miR-133a-1 and miR-133a-2 are …
study, we have shown that the muscle-specific microRNAs miR-133a-1 and miR-133a-2 are …
Panorama of the distal myopathies
M Savarese, J Sarparanta, A Vihola… - Acta …, 2020 - pmc.ncbi.nlm.nih.gov
Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …
Congenital myopathies: an update
JR Nance, JJ Dowling, EM Gibbs… - Current neurology and …, 2012 - Springer
Congenital myopathy is a clinicopathological concept of characteristic histopathological
findings on muscle biopsy in a patient with early-onset weakness. Three main categories are …
findings on muscle biopsy in a patient with early-onset weakness. Three main categories are …
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
J Böhm, V Biancalana, ET DeChene, M Bitoun… - Human …, 2012 - Wiley Online Library
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with
general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally …
general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally …