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CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Zygomatic Screws for Severe Open Bite Closure in a Young Friedreich's Ataxia Patient: A Case Report. [PDF]

Case Rep Dent
Assali A, Zaoui F, Bahoum A.
europepmc   +1 more source

Regenotherapy in hypotonia of the masticatory muscles

The Pain Clinic, 2002
AbstractThe research was carried out on 10 edentate patients who required occlusal rehabilitation with a fixed prosthesis. All patients suffered from muscle hypotonia of the temporal and masseter muscles on both sides or of the masseter muscles only.
B. Valentino, A. M. Guidetti, F. Melito, T. Valentino, E. Farina   +4 more
openalex   +2 more sources

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Type III Collagen Deficient EDS IV Producing Muscular Hypotonia with Abnormal Muscle Fibroblasts*

Neuropediatrics, 1991
Muscle biopsy and fibroblast culture of a floppy child with Ehlers-Danlos syndrome type IV were studied. Biochemical analysis of the tissue showed drastically reduced amount of collagen type III. Electron microscopic examination of muscle as well as of cultured fibroblasts showed grossly dilated and dominated the cytoplasm endoplasmic reticulum ...
A, Fidziańska, Z, Glinka, A, Kamińska, F M, Pope   +3 more
openaire   +4 more sources

Hereditary Hypotonia, Muscle Weakness, Failure to Thrive, and Cognitive Delay in a Large Moslem Kindred

Pediatric Neurology, 2006
Five infants of a Moslem-Arab extended family were evaluated for common and characteristic clinical findings of failure to thrive, extreme muscle weakness, severe motor delay, and moderate to severe cognitive and verbal delay. All children were below the third percentile in weight and height, and three of them had head circumference below the third ...
Miriam Kutai, Stavit A. Shalev, Ilana Chervinski, Galia Mazor, Malcolm Rabie, Yoram Nevo   +5 more
openalex   +3 more sources

D-2-Hydroxyglutaric Aciduria: Hypotonia, Cortical Blindness, Seizures, Cardiomyopathy, and Cylindrical Spirals in Skeletal Muscle

Journal of Child Neurology, 1997
An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case described and the first with muscle biopsy of this rare organic aciduria that differs clinically and genetically from the more common L-2-hydroxyglutaric aciduria.
Noel S. Baker, Harvey B. Sarnat, Rhona M. Jack, Kathleen Patterson, Dennis Shaw, Steve Herndon   +5 more
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Histopathological Background of Muscle Hypotonia in Children with the Prader-Willi Syndrome

Pediatrics International, 1981
To elucidate the pathogenesis of hypotonia in the Prader-Willi syndrome, a histological approach towards the five cases was adopted, and traditional histological, histochemical and electron microscopic studies were perfomed. As a result, in light microscopic study type 2 fiber atrophy was found in all the five cases examined, and a combination with ...
Yoshito Hirayama, Haruko Suzuki, Makiko Ohsawa   +2 more
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Muscle hypotonia

, 2009
Jozef Rovenský, Juraj Payer
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Fiber density in congenital muscle fiber type disproportion. II. Congenital muscle hypotonia and hip dislocation.

Electromyography and clinical neurophysiology, 1991
Our previous paper presenting electromyographic findings in patients with congenital fiber type disproportion myopathy, confirmed the myogenic character of the disease process. That group of patients was however fairly heterogenous regarding both the clinical features and the morphological changes in muscle fibers (e.g. cases with central cores).
K Rowińska-Marcińska, M Strugalska, I Hausmanowa-Pétrusewicz   +2 more
openalex   +2 more sources