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Case reportEuropean journal of neurology · 2026

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.

Mariana Manoel Oku, Zhiyv Niu, Duygu Selcen … Margherita Milone

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OphthalmologyCase report

Low-frequency nerve stimulation showed a decrement confirming a neuromuscular junction disorder, not myopathy.

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.

Mariana Manoel Oku … Margherita Milone

European journal of neurology · 2026

Background

Agrin-congenital myasthenic syndrome (agrin-congenital myasthenic syndrome) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood.

Methods

We report the clinical, electrophysiological, radiological, myopathological, and genetic findings of a patient with agrin-congenital myasthenic syndrome.

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Results

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Muscle response dropped 32% with repeated nerve pulses, signaling impaired nerve-muscle signal transmission.

More results

A 47-year-old male presented at age 18 with sudden onset of eyelid ptosis, weakness, and fatigue, followed by dysphagia, dyspnea on exertion, exercise intolerance, and myalgias.

Three sisters had similar symptoms.

Neurological examination showed lower limb weakness, predominantly affecting the calf muscles with associated atrophy.

More results

Whole exome sequencing detected a homozygous pathogenic AGRN variant (c.5012G>A, p.

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Conclusion

This patient expands the pathological spectrum of agrin-congenital myasthenic syndrome to include mitochondrial dysfunction and highlights the importance of low-frequency repetitive nerve stimulation in the assessment of patients with distal weakness for differentiating myopathies from CMS.

Post

Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.

Low-frequency nerve stimulation showed a decrement confirming a neuromuscular junction disorder, not myopathy.

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