Fig. 1. Pedigree of the patient with spinal muscular atrophy with respiratory distress type 1. (A) Partial Sanger sequencing of IGHMBP2 (NM_002280.2) homozygous for c.1273C>T (p.Arg425Cys) in exon 9 in the patient (IV-9) and each mutation inherited from the patient's parent (III-2 and III-3). (B) Sequencing of her surviving brother (IV-2) as a heterozygous carrier of the mutation. A written consent was obtained for publication of patient and family information.

IGHMBP2 = immunoglobulin mu binding protein 2.