Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

doi:10.1016/j.ejpn.2013.11.006

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Article

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2014

Jędrzejowska Maria, Madej-Pilarczyk Agnieszka, Fidziańska Anna, Mierzewska Hanna, Pronicka Ewa, Obersztyn Ewa, Gos Monika, Pronicki Maciej, Kmieć Tomasz, Migdał Marek, Mierzewska-Schmidt Magdalena, Walczak-Wojtkowska Iwona, Konopka Elżbieta, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive form of spinal muscular atrophy manifested in low birth weight, diaphragmatic palsy and distal muscular atrophy. Caused by a mutation in the IGHMBP2 gene, the disease is addressed here by reference to five Polish patients in which SMARD1 has been confirmed genetically. All presented a severe form of the disease...

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Identifiers

PMID: 24388491
DOI: 10.1016/j.ejpn.2013.11.006

Genes

IGHMBP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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