Results 121 to 130 of about 10,373 (189)

PhD

, 2008
dissertationMyotonia Congenita (MC) is a genetic muscle disorder manifesting myotonia, a delayed relaxation of muscle after contraction. MC includes two inherited forms: autosomal dominant myotonia congenita (Thomsen\u27s disease) and autosomal recessive
Zhang, Jie.
core  

Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita. [PDF]

Eur J Neurol
Jacobsen LN, Stemmerik MG, Skriver SV, Pedersen JJ, Løkken N, Vissing J.   +5 more
europepmc   +1 more source

Autosomal Recessive Myotonia Congenita in an Adolescent Boy With Novel Mutation: A Case Report With Discussion on Management. [PDF]

Cureus
Das P, Panigrahi D.
europepmc   +1 more source

Chronic inflammatory demyelinating polyradiculoneuropathy relapse after mexiletine withdrawal in a patient with concomitant myotonia congenita: A case report on a potential treatment option. [PDF]

Medicine (Baltimore), 2020
Portaro S, Biasini F, Bramanti P, Naro A, Calabrò RS.   +4 more
europepmc   +1 more source

Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk. [PDF]

Medeni Med J, 2019
Damar IH, Eroz R.
europepmc   +1 more source

Myotonia Congenita [PDF]

, 2020
openaire   +1 more source

A Case of Myotonia Congenita with Hypothyroidism [PDF]

BMJ, 1957
openaire   +2 more sources

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease). [PDF]

Eur J Hum Genet, 2018
Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.   +5 more
europepmc   +1 more source

Myotonia Congenita [PDF]

, 2019
openaire   +1 more source

A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? [PDF]

Medicine (Baltimore), 2018
Portaro S, Cacciola A, Naro A, Milardi D, Morabito R, Corallo F, Marino S, Bramanti A, Mazzon E, Calabrò RS.   +9 more
europepmc   +1 more source