dystrophia

Dystrophia Myotonica and Related Disorders.

Dystrophia myotonica (Steinert)

His appearance in likenesses and the accounts of his life suggest he had Dystrophia myotonica, a congenital multi-system disorder.

DMPK: Dystrophia myotonica-protein kinase.

Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly variable, inherited multisystemic disease.

Sjaastad, Ø & Sjaastad, O. Urinary excretion of histamine in patients with dystrophia myotonica.

Dystrophia myotonica WD repeat-containing protein is a protein that in humans is encoded by the DMWD gene.

This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene.

Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome and dystrophia retinae dysacusis syndrome.

In 1901 he provided a comprehensive description of dystrophia adiposogenitalis, of which he published a paper titled Ein Fall von Tumor der Hypophysis cerebri ohne Akromegalie.

An expanded number of trinucleotide (CTG) repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene causes myotonic dystrophy.