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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

Fig. 1

Pedigree of the 3 Iranian families affected by SMA-PME. Family A, with an affected boy with c.109 C > A variant in ASAH1 gene. Families B and C, the 2 consanguineous families with common c.125 C > T variant in ASAH1 gene. The affected probands are indicated by black arrow. Circles indicate female, squares indicate male, and triangles indicate abortion. Consanguinity is represented by parallel lines in families B and C

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