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Fig. 1 | BMC Neurology

Fig. 1

From: Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

Fig. 1

a The parents are consanguineous and the family has no neuromuscular disease. b Pictures at age of 22. He showed a Hercules-like appearance with hypertrophy of the limbs and axial muscles. c Cranial MRI. T1-weighted image. Hypertrophy of all extraocular muscles (asterisks) can be seen. d Genetic analysis. A heterozygous missense mutation of the SCN4A gene (c.2065 C > T p.L689F) was detected on direct sequencing

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BMC Neurology

ISSN: 1471-2377

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