Analysis of clinical and gene mutation characteristics in patients of isolated myopathy caused by <italic>HNRNPA1</italic> mutation

<p indent="0mm">China has no records of <italic>HNRNPA1</italic> gene mutations. To analyze the clinical and genetic characteristics of <italic>HNRNPA1</italic> gene mutations. The clinical and genetic data of the probands and related members of two pedigrees admitted to the Department of Neurology of First Affiliated Hospital of Fujian Medical University from December 2018 to December 2021 were collected. Clinical characteristics and genetic variation of patients reported in the literature with <italic>HNRNPA1</italic> variant were collected. Six patients from the two pedigrees were observed with pure muscular phenotype in this group, absence of bone tissue/motor neuron involvement. One pedigree had late adult-onset progressive myopathy with predominant lower limb weakness and genetic analysis confirmed a heterozygous mutation c.940G&gt;A (p.D314N) in <italic>HNRNPA1</italic> gene. Another pedigree had adolescence-onset slowly progressive myopathy with distal upper limb weakness and genetic analysis confirmed a heterozygous mutation c.1064-2A&gt;G in <italic>HNRNPA1</italic> gene. Searching the literature, a few patients have been reported abroad. <italic>HNRNPA1</italic> gene mutations are linked to a variety of phenotypes. Our findings suggest that mutations in the <italic>HNRNPA1</italic> gene are extremely rare and are linked to a variety of phenotypes. Genetic testing is the main diagnostic method for this disease.