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Article

A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.

American journal of medical genetics. Part A - 1 Mar 2022

Gurunathan Sharavana, Sebastian Jessica, Baker Jennifer, Abdel-Hamid Hoda Z, West Shawn C, Feingold Brian, Peche Vivek, Reyes-Múgica Miguel, Madan-Khetarpal Suneeta, Field Jeffrey

Abstract excerpt

Nemaline Myopathy (NM) is a disorder of skeletal muscles caused by mutations in sarcomere proteins and characterized by accumulation of microscopic rod or thread-like structures (nemaline bodies) in skeletal muscles. Patients diagnosed with both NM and infantile cardiomyopathy are very rare. A male infant presented, within the first few hours of life, with severe dilated cardiomyopathy, biventricular dysfunction...

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Share to Adaptor Proteins, Signal Transducing
Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Infant, Newborn

Share to Membrane Proteins

Share to Muscle, Skeletal

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Share to Myopathies, Nemaline

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Identifiers

PMID: 34862840
DOI: 10.1002/ajmg.a.62590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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