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 …

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 …

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 …

[HTML][HTML] Leishmania donovani targets Dicer1 to downregulate miR-122, lower serum cholesterol, and facilitate murine liver infection

J Ghosh, M Bose, S Roy, SN Bhattacharyya - Cell host & microbe, 2013 - cell.com
Leishmania donovani causes visceral leishmaniasis (VL) where the parasite infects and
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

R Gómez-Oca, BS Cowling, J Laporte - International journal of molecular …, 2021 - mdpi.com
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
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 …

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

N Liu, S Bezprozvannaya, JM Shelton, MI Frisard… - The Journal of clinical …, 2011 - jci.org
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 …

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 …

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 …

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 …