Results 91 to 100 of about 10,373 (189)
The spectrum of myopathies in the city of São Paulo
Arquivos de Neuro-Psiquiatria, 1976 A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported.
José A. Levy +4 more
doaj +1 more source
, 1905 EIN FALL VON MYOTONIA CONGENITA (THOMSEN'SCHE KRANKHEIT), VERBUNDEN MIT PROGRESSIVER MUSKELDYSTROPHIE Ein Fall von Myotonia congenita (Thomsen'sche Krankheit), verbunden mit progressiver Muskeldystrophie ([1]) Binding ( - ) Title page ([1])
Mannel, Ernst
core
The treatment of myotonia congenita.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998 No ...
openaire +2 more sources
European Journal of Histochemistry, 2009 Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola +3 more
doaj +1 more source
Mechanisms of Phenotypic Variability in Myotonia Congenita [PDF]
, 2013 The severity of Myotonia Congenita varies not only across individuals with different CLCN1 genotypes, but also within a pedigree, and can even fluctuate over time within a single individual in response to environmental circumstances.
Burge, JA
core
Becker’s variant of myotonia congenita in two siblings- A clinico-genetic study [PDF]
, 2004 We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker’s variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Becker’s disease), has earlier been
S. Basu +3 more
core +1 more source
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Iranian Journal of Medical Sciences, 2016 Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi +2 more
doaj
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations. [PDF]
Biomedicines, 2023 Brenes O, Pusch M, Morales F.
europepmc +1 more source
A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita. [PDF]
Cureus, 2023 Gilitwala Z, Satpute S, Patil S.
europepmc +1 more source
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment. [PDF]
J Vet Intern Med, 2022 Woelfel C +4 more
europepmc +1 more source