Nemaline myopathy type 2 (NEM2): Two novel mutations in the nebulin (NEB) Gene

Anna Gajda, Emese Horváth, Tibor Hortobágyi, Gyurgyinka Gergev, Hajnalka Szabó, Katalin Farkas, Nikoletta Nagy, Márta Széll, László Sztriha

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling.

Original languageEnglish
Pages (from-to)627-630
Number of pages4
JournalJournal of Child Neurology
Volume30
Issue number5
DOIs
Publication statusPublished - Apr 27 2015

Keywords

  • congenital myopathy
  • hypotonia
  • nebulin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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