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  • Title: A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
    Author: Tachi N, Kikuchi S, Kozuka N, Nogami A.
    Journal: Pediatr Neurol; 2005 Apr; 32(4):288-90. PubMed ID: 15797190.
    Abstract:
    This report presents a new mutation in the first Japanese female infant with spinal muscular atrophy with respiratory distress type 1. She manifested the characteristic clinical features, including early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness. Muscle biopsy in the femoral muscle indicated massive neurogenic changes. Sural nerve biopsy disclosed a moderate reduction of myelinated fibers, predominantly reduced large fibers. She had a novel homozygous missense mutation 2685 C -->A, leading to a T879K substitution in the immunoglobulin mu-binding protein 2 gene. Both parents were heterozygous for this mutation.
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