16 Result(s)
within
Michel Fardeau
Neurosciences
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Article
Open AccessClinical, histological, and genetic characterization of PYROXD1-related myopathy
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clin...
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Article
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel subclass of congenital myopathy at the morphological, m...
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Article
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas fem...
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Article
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tub...
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Article
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Muscle contraction upon nerve stimulation relies on excitation–contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the d...
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Article
Open AccessMuscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle biopsy. The neb...
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Article
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VM...
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Article
Reply: “Necklace” fibers and “trilaminar” fibers are different
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Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also...
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Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
Myofibrillar myopathies (MFMs) are rare inherited or sporadic progressive neuromuscular disorders with considerable clinical and genetic heterogeneity. In the current study, we have analyzed histopathological ...
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Article
Age-related morphological changes of the deltoid muscle from 50 to 79 years of age
A quantitative analysis of deltoid muscle biopsy specimens was performed by light microscopy in 26 males and 25 females aged 50–79 years without known neuromuscular disease. Muscle fibre size, fibre type dist...
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Article
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
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Chapter
Regeneration of Skeletal Muscle Induced by Satellite Cell Grafts
Trauma to a skeletal muscle may be experimentally induced by various types of injury. This results in the necrosis of the injured muscle fibers followed by the degradation of cell debris and subsequent regener...
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Article
Étude d'une nouvelle observation de «Nemaline Myopathy»
Ultrastructural study of an observation of “Nemaline Myopathy” has been focused on structural relationships between rods and normal Z-bands in different conditions of fixation. The Z-band structure studied in ...
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Article
Les désorganisations spatiales des myofibrilles, des sarcomères et des myofilaments dans les zones périphériques de fibres musculaires pathologiques étudiées en microscopie électronique
In various—usually pathologic—conditions the muscle fibre may show a distinct peripheral zone containing abnormally arranged filamentous formations. The authors have analysed the ultrastructural aspects of thr...
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Article
Les leuco-encéphalopathies de l'intoxication oxycarbonée
