Results 191 to 200 of about 2,143,667 (228)

Nemaline rod and central core disease: A coexisting Z-band myopathy

Muscle and Nerve, 1997
Chinnamma Thomas
exaly   +3 more sources

Cores in hypothyroid myopathy: a clinical, histological and immunofluorescence study

Journal of the Neurological Sciences, 2000
Fifteen patients with primary hypothyroidism were evaluated neurologically. Needle biopsies of skeletal muscle were obtained using a Bergstrom needle. In 73% of the patients, cores were identified histologically and by electron microscopy in the skeletal muscle of these patients.
openaire   +2 more sources

Central core disease--a congenital myopathy.

Diseases of the nervous system, 1977
A case is reported of a 28-year-old woman with central core disease who prior to muscle biopsy was diagnosed to have muscular dystrophy. Histologic evaluation confirmed a diagnosis of central core disease, a nonprogressive or slowly progressive disorder of voluntary muscle belonging to a group of muscle diseases called benign congenital myopathies. The
J R, Saper, H H, Itabashi
openaire   +1 more source

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Neurology, 2002
Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYR1 locus.
Jungbluth, H, Muller, C R, Halliger-Keller, B, Brockington, M, Brown, S C, Feng, L, Chattopadhyay, A, Mercuri, E, Manzur, A Z, Ferreiro, A, Laing, N G, Davis, M R, Roper, H P, Dubowitz, V, Bydder, G, Sewry, C A, Muntoni, F   +16 more
openaire   +3 more sources

Undetected central core disease myopathy in an infant presenting for clubfoot surgery

Pediatric Anesthesia, 2006
SummaryA 1‐year‐old child was scheduled for two stage bilateral clubfoot surgery. Preoperative evaluation was normal and total intravenous anesthesia with a continuous sciatic nerve block was performed. Two months later, before the second clubfoot correction, a hip subluxation was evident suggesting a provisional diagnosis of neuromuscular disease ...
ZANETTE, GASTONE, ROBB N, ZADRA N, ZANETTE L, MANANI G.   +4 more
openaire   +3 more sources

Congenital Central Core Myopathy with Malignant Hyperthermia

2014
Central core disease (CCD) is one form of congenital myopathy characterized by peculiar histopathological changes in muscle, the central cores, which are central areas of the myoplasm with loss of oxidative enzyme staining. The onset of the disease occurs in infancy, with hypotonia, motor developmental delay, and proximal lower girdle weakness ...
openaire   +1 more source

RYR1-associated core myopathy

Neurology India, 2015
Puneet, Jain, Shikha, Mahajan
openaire   +2 more sources

[Central core myopathy: a juvenile and adult disease].

Der Nervenarzt, 2007
Central core myopathy is a nonprogressive or only slowly progressive congenital muscle disease. In most cases, symptoms begin in childhood, but rare cases with adult onset are described. Regardless of its high variability, the clinical hallmarks are diffuse muscle weakness and the development of multiple bone deformities and contractures.
H J, Gdynia, A-D, Sperfeld, C O, Hanemann   +2 more
openaire   +1 more source

Central-core-Myopathie

Der Nervenarzt, 2007
H.J. Gdynia, A.-D. Sperfeld, C.O. Hanemann   +2 more
openaire   +1 more source

Congenital nonprogressive myopathy

Neurology, 1965
A K, AFIFI, J W, SMITH, H, ZELLWEGER
openaire   +2 more sources