myotonia/atrofiere

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Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.

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Any biological structure can be studied using mutations that interfere either with its emergence or its function. We investigate spontaneous and induced mutations in the mouse that affect neuromuscular development and function. The wobbler mouse (phenotype WR, genotype wr/wr) suffers from muscular

[Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers].

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A 35 years old man has a non progressive muscle disease which appeared when he was 6. Clinically, there is a slight muscle hypertrophy, an important spontaneous myotonia and a curious muscle weakness, quite marked on the first efforts, but disappearing entirely after a few muscle contractions. The

Ultrastructural relationship of quadriceps muscle degeneration with a distant peroneal nerve conduction in human myotonia dystrophica.

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The association of motor nerve conduction velocity (MNCV) to (1) duration of symptoms, (2) deep tendon reflex responses, (3) clinical muscle atrophy, and (4) ultrastructure of quadriceps muscle was studied in 18 patients with myotonia dystrophica of Steinert and nine normal controls. These patients

Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy.

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We describe the case of a 33-year-old man with a 4-year history of worsening muscle stiffness and weakness in his right hand. He showed elevated serum creatine kinase levels at the onset of muscle stiffness that was characterized by delayed muscle relaxation after voluntary contraction. This symptom

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.

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BACKGROUND Muscle magnetic resonance imaging (MRI) is the most sensitive method in the detection of dystrophic and non-dystrophic abnormalities within striated muscles. We hypothesized that in severe myotonia congenita type Becker muscle stiffness, prolonged transient weakness and muscle hypertrophy

[On the morphology, nosological position and pathogenesis of Oppenheim's myotonia congenita and Werdnig-Hoffmann's infantile spinal progressive muscular atrophy].

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[Normal X Y karyotype and histology of Klinefelterian type in the testicular atrophy of Steinert's disease (myotonia atrophica)].

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[A family affected by myotonia dystrophica (Steinert's) at least one of which is affected by atypical tapeto-retinal degeneration].

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Myotonia atrophica with testicular atrophy: urinary excretion of interstitial; cell-stimulating (luteinizing) hormone, androgens and 17-ketosteroids.

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[Syndrome of myokymia, pseudo-myotonia, muscular atrophy, and hyperhidrosis. Apropos of a case].

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Two Cases of Myotonia Atrophica, showing a peculiar Distribution of Muscular Atrophy.

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[Hereditary status of cutaneous atrophy with premature senescence; Rothmund's syndrome, Wernèr's syndrome, Thomson's congenital poikiloderma, Steinert's atrophic myotonia, progeria, acrogeria, etc.; new hereditary chain].

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Unclassified familial myopathy resembling Steinert disease, without myotonia.

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A familial myopathy with predominantly proximal muscle atrophy is described. Although several clinical features such as sternomastoid and brachioradialis muscle involvement suggested Steinert disease, myotonia was not demonstrated by clinical examination or EMG. Histological data were consistent

[Infantile spinal amyotrophy with myotonia. Electromyographic study].

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An unusual feature was observed in a 7-year-old boy presenting with type II infantile spinal muscular atrophy: percussion myotonia, clinical expression of pseudomyotonic volleys (bizarre high frequency discharge or complex repetitive discharge).

Myotonia, a new inherited muscle disease in mice.

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Electromyographic (EMG) and histological studies were carried out with the new mouse mutant myotonia (mto, autosomal recessive). Affected animals exhibited behavioral myotonia which was apparent at 2 weeks of age. EMG studies revealed myotonic discharges (prolonged repetitive discharges with

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