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Case Reports
. 2025 Nov 21;65(11):791-796.
doi: 10.5692/clinicalneurol.cn-002067. Epub 2025 Oct 24.

[A family with nonsynonymous mutations of filamin C actin-binding domain]

[Article in Japanese]
Mikio Hirayama  1 , Kazunori Imai  2   3 , Fumitada Yamasita  3 , Akira Inukai  4
Affiliations
Case Reports

[A family with nonsynonymous mutations of filamin C actin-binding domain]

[Article in Japanese]
Mikio Hirayama et al. Rinsho Shinkeigaku. .

Abstract

We report a sibling case of progressive muscle weakness beginning in their 40s. The younger brother was initially suspected to have spinal muscular atrophy based on electromyography findings, but no SMN1 gene deletion was identified. Whole-exome sequencing in the siblings detected a heterozygous nonsynonymous mutation, c.577G>A (p.Ala193Thr), located in the actin-binding domain (ABD) of the filamin C (FLNC) gene. Muscle weakness of a sibling started in the proximal lower limbs and gradually progressed to the distal lower limbs, trunk, and upper limbs. Muscle MRI showed marked involvement of the medial and posterior thigh muscles, gastrocnemius, and soleus muscles, with relative sparing of the muscles of rectus femoris, gracilis, and tibialis anterior. These findings suggest a characteristic pattern of muscle involvement associated with this FLNC-ABD mutation.

Keywords: actin-binding domain; filamin C myopathy; muscle MRI; myofibrillar myopathy; whole exon sequencing.

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