" /> Z-band alternatively spliced PDZ motif containing-protein myopathy - CISMeF





Preferred Label : Z-band alternatively spliced PDZ motif containing-protein myopathy;

ICD-11 definition : 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.;

ICD-11 synonym : ZASP - [Z-band alternatively spliced PDZ motif containing-protein myopathy]; Zaspopathy;

ICD-11 acronym : ZASP;

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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.

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27/07/2025


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