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myotonia/atrophy

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Ukurasa 1 kutoka 192 matokeo

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

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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
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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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
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

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

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia

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

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia

Unclassified familial myopathy resembling Steinert disease, without myotonia.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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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