26 Result(s)
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Article
Michel Fardeau
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Les leuco-encéphalopathies de l'intoxication oxycarbonée
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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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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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Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene
The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.
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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
X-LINKED recessive Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, a membrane cytoskeletal protein1,2. Dystrophin is associated with a large oligomeric com-plex of sarcolemmal glycoprote...
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Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children
Despite the demonstration of a clear biochemical defect, the genetic alterations causing childhood forms of cytochromec oxidase (COX) deficiency remain unknown. The double genetic origin (nuclear and mitochondria...
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Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy
Congenital muscular dystrophies (CMDs), are heterogeneous autosomal recessive disorders. Their severe manifestations consist of early hypotonia and weakness, markedly delayed motor milestones and contractures,...
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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
β–sarcoglycan, a 43 kDa dystrophin–associated glycoprotein, is an integral component of the dystrophin–glycoprotein complex. We have cloned human β–sarcoglycan cDNA and mapped the β–sarcoglycan gene to chromos...
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Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
Desmin is a muscle-specific intermediate filament that is encoded by a gene assigned to human chromosome 2q35. Desmin-related myopathies are inherited disorders characterized by an intrasarcoplasmic accumulat...
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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with a world-wide distribution1. It usually presents in the sixth decade with progressive swallowing difficulties (dysphag...
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A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament fa...
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome (PAC) contig...
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which...
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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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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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Mutations in dynamin 2 cause dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurre...
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“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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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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Reply: “Necklace” fibers and “trilaminar” fibers are different
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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...
