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Article

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Neuromuscular disorders : NMD - 1 Mar 2016

Pajusalu Sander, Talvik Inga, Noormets Klari, Talvik Tiina, Põder Haide, Joost Kairit, Puusepp Sanna, Piirsoo Andres, Stenzel Werner, Goebel Hans H, Nikopensius Tiit, Annilo Tarmo, Nõukas Margit, Metspalu Andres, Õunap Katrin, Reimand Tiia

Abstract excerpt

Here we report on a case of MYH7-related myopathy in a boy with early onset of muscular weakness and delayed motor development in infancy. His most affected muscles were neck extensors showing a dropped head sign, proximal muscles of lower limbs with positive Gower's sign, and trunk muscles. Brain and spinal cord MRI scans, echocardiography, and laboratory analyses including creatine kinase and lactate did not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26782017
DOI: 10.1016/j.nmd.2015.11.011

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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