Z-band alternatively spliced PDZ motif containing-protein myopathy (Q84636): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Created a new Item
 
‎Changed label, description and/or aliases in pt-br, en
description / pt-brdescription / pt-br
 
Miopatia contendo proteína PDZ motif em banda Z com splicing alternativo (ZASP) é uma miopatia miofibrilar autossômica dominante causada por mutações em ZASP. O espectro clínico da zaspopatia inclui cardiomiopatia, fraqueza mais distal que proximal e neuropatia periférica.
description / endescription / en
 
Z-band alternatively spliced PDZ motif containing-protein (ZASP) myopathy is an autosomal dominant myofibrillar myopathy caused by mutations in ZASP. Clinical spectrum of zaspopathy includes cardiomyopathy, distal more than proximal weakness, and peripheral neuropathy.

Revision as of 09:58, 15 August 2026

Z-band alternatively spliced PDZ motif containing-protein (ZASP) myopathy is an autosomal dominant myofibrillar myopathy caused by mutations in ZASP. Clinical spectrum of zaspopathy includes cardiomyopathy, distal more than proximal weakness, and peripheral neuropathy.
Language Label Description Also known as
default for all languages
ID_1287541405
    English
    Z-band alternatively spliced PDZ motif containing-protein myopathy
    Z-band alternatively spliced PDZ motif containing-protein (ZASP) myopathy is an autosomal dominant myofibrillar myopathy caused by mutations in ZASP. Clinical spectrum of zaspopathy includes cardiomyopathy, distal more than proximal weakness, and peripheral neuropathy.

      Statements