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Fig. 1 | BMC Neurology

Fig. 1

From: Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

Fig. 1

Domain structure of dynamin 2 and location of known disease-causing mutations. Mutations associated with Central nuclear myopathy are shown in black in the upper set; mutations associated with subtypes of Charcot-Marie-Tooth neuropathy are shown in blue at the bottom of the diagram. A homozygous mutation associated with Lethal Congenital Contracture Syndrome appears in green in the upper set. The p.R719W mutation identified in the Siberian family with Hereditary Spastic Paraplegia is shown in red within the bottom set

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BMC Neurology

ISSN: 1471-2377

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