arachnodactyly/asthenia

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A case of Marfan's syndrome phenotype associated with neurogenic muscle atrophy.

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A 23 year-old man was admitted because of weakness and atrophy in both tights. He was 184 cm in height with arachnodactyly and had a mild dilatation of the ascending aorta which was detected by cardiac echogram and chest CT scan. A laboratory examination revealed normal serum values for

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.

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BACKGROUND Fibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin. Marfan's syndrome and congenital contractural arachnodactyly (CCA) result from dominant mutations in the genes FBN1 and

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

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Of the seven autosomal dominant genetically distinct forms of LGMD so far described, in only four the causative gene has been identified (LGMD1A-1D). We describe clinical, histopathological and muscle MRI features of a large Italo-Spanish kindred with LGMD1F presenting proximal-limb and axial muscle

[Skeletal and occlusal alterations in the diagnosis of Marfan syndrome].

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The Marfan syndrome is an autosomal dominant hereditary connective tissue disorder with variable expressivity. The incidence is estimated to be at least 1 case per 10000 individuals in most populations. The syndrome is caused by mutations in the gene coding for Fibrillin-1 (FBN1), an extracellular

Spontaneous CSF leaks: underlying disorder of connective tissue.

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Of 58 consecutive patients with spontaneous CSF leaks, nine exhibited features of connective tissue disorder. One had Marfan's syndrome. Five additional patients had hyperflexible joints, of whom four had arachnodactyly, four were tall and slender, two had hyperextensible skin, and one had a strong

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.

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Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause Congenital Contractural Arachnodactyly. Both are

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