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Fig. 4 | BMC Neurology

Fig. 4

From: A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

Fig. 4

Molecular consequences of the FLNC c.7123G > A, p.V2375I mutation. The mutation is located in the 21st Ig-like repeated domain (a). DNA sequencing analysis showed a heterozygous missense mutation (c.7123G > A) in FLNC (red arrows) (b). Partial amino acid sequence alignment of the 21st Ig-like repeat domain of filamin proteins from various species (c)

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