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Article

Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2022

Lv Xiaoqing, Zhao Bing, Xu Ling, Jiang Wei, Dai Tingjun, Zhao Dandan, Lin Pengfei, Yan Chuanzhu

Abstract excerpt

Hereditary myopathy with early respiratory failure (HMERF) is a subtype of myofibrillar myopathy. Mutations located on exon 344 of the titin-A band, the 119th fibronectin-3 domain (FN3 119), are responsible for HMERF. In this article, we retrospectively analyzed the clinical features, findings of muscle imaging, muscle pathology, immunohistochemistry, and ultrastructural characteristics of seven patients...

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Identifiers

PMID: 34839411
DOI: 10.1007/s10072-021-05783-1

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