Biomaterial Database

[Clinical and metabolic study of a case of Eulenburg's congenital paramyotonie. Ultrastructural data concerning the muscle biopsy]. 1966

R Garcin, and M Legrain, and P Rondot, and M Fardeau

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009132	Muscles	Contractile tissue that produces movement in animals.	Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009224	Myotonia Congenita	Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.	Becker Generalized Myotonia,Myotonia, Generalized, Becker,Thomsen Disease,Batten Turner Congenital Myopathy,Batten-Turner Congenital Myopathy,Becker Disease,Congenital Myotonia,Generalized Myotonia of Becker,Generalized Myotonia of Thomsen,Myopathy, Congenital,Myotonia Congenita, Autosomal Dominant,Myotonia Congenita, Autosomal Recessive,Myotonia Levior,Myotonia, Generalized,Thomsen's Disease,Thomsens Disease,Disease, Becker,Disease, Thomsen,Disease, Thomsen's,Disease, Thomsens,Generalized Myotonia,Generalized Myotonia, Becker,Generalized Myotonias,Myotonia, Becker Generalized,Myotonias, Generalized,Thomsen Generalized Myotonia
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014882	Water-Electrolyte Balance	The balance of fluid in the BODY FLUID COMPARTMENTS; total BODY WATER; BLOOD VOLUME; EXTRACELLULAR SPACE; INTRACELLULAR SPACE, maintained by processes in the body that regulate the intake and excretion of WATER and ELECTROLYTES, particularly SODIUM and POTASSIUM.	Fluid Balance,Electrolyte Balance,Balance, Electrolyte,Balance, Fluid,Balance, Water-Electrolyte,Water Electrolyte Balance