Results 111 to 120 of about 7,618,843 (150)

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy. [PDF]

Int J Mol Sci
Janßen S, Erbe LS, Kneifel M, Vorgerd M, Döring K, Lubieniecki KP, Lubieniecka JM, Gerding WM, Casadei N, Güttsches AK, Heyer C, Lücke T, Nguyen HHP, Köhler C, Hoffjan S.   +14 more
europepmc   +1 more source

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition. [PDF]

Front Neurol
Piga D, Rimoldi M, Magri F, Zanotti S, Napoli L, Ripolone M, Pagliarani S, Ciscato P, Velardo D, D'Amico A, Bertini E, Comi GP, Ronchi D, Corti S.   +13 more
europepmc   +1 more source

Perioperative management of cesarean section in pregnant women complicated by central core disease: A case report and literature review. [PDF]

Medicine (Baltimore)
Cheng S, Yu R.
europepmc   +1 more source

SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report. [PDF]

J Med Case Rep
Risi B, Caria F, Damioli S, Labella B, Lanzi G, Bugatti M, Baronchelli C, Bertella E, Giovanelli G, Ferullo L, Olivieri E, Poli L, Padovani A, Filosto M.   +13 more
europepmc   +1 more source

Surgical Versus Non-Surgical Treatment of Patients with Myopathic Scoliosis: Clinical, Radiological and Functional Outcomes. [PDF]

Children (Basel)
Satanovsky A, Hanna R, Weiss PL, Rigbi A, Schroeder JE, Eylon S.   +5 more
europepmc   +1 more source

Congenital fiber type disproportion myopathy caused by LMNA mutations

Journal of the Neurological Sciences, 2014
A boy, who had shown muscle weakness and hypotonia from early childhood and fiber type disproportion (FTD) with no dystrophic changes on muscle biopsy, was initially diagnosed as having congenital fiber type disproportion (CFTD). Subsequently, he developed cardiac conduction blocks.
Satoru Noguchi, Ichizo Nishino, Yukiko Hayashi   +2 more
exaly   +4 more sources

Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion

Brain and Development, 1986
In a morphometric study on biopsied muscles from 5 patients with nemaline myopathy (NM) and 5 with congenital fiber type disproportion (CFTD), the common findings were relative type 1 fiber smallness, type 1 fiber predominance and occasional hypertrophic type 2 fibers.
T Miike
exaly   +4 more sources

Early Predictors of Poor Outcome in Congenital Fiber-Type Disproportion Myopathy

Archives of Neurology, 1992
We report the cases of eight children with histologic findings in the muscle of congenital fiber-type disproportion myopathy. Five had severe muscle weakness at birth; three of them died at 6 months, 18 months, and 6.5 years of age, respectively, and the other two are ventilator dependent and need total care at 2.5 and 4 years of age. The five children
Richard T Moxley, R T Moxley, C F Torres
exaly   +4 more sources

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10; 17) may indicate candidate gene regions

Clinical Genetics, 1994
A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the clinically healthy mother, who nevertheless showed ...
Henrik D Schrøder, Karen Brøndum-Nielsen, Michael B. Petersen   +2 more
exaly   +4 more sources