X-Linked myotubular myopathy: Report of a case with novel mutation

T. Hortobágyi, Hajnalka Szabó, Krisztián S. Kovács, István Bódi, Edit Bereg, M. Katona, Valérie Biancalana, S. Túri, L. Sztriha

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.

Original languageEnglish
Pages (from-to)447-451
Number of pages5
JournalJournal of Child Neurology
Volume22
Issue number4
DOIs
Publication statusPublished - Apr 2007

Fingerprint

Congenital Structural Myopathies
Mutation
Myotonia Congenita
Arthrogryposis
Muscles
Frameshift Mutation
Muscle Hypotonia
Respiratory Insufficiency
Parturition
Biopsy
Genes

Keywords

  • Centronuclear myopathy
  • MTM1
  • Myotubularin
  • X-linked myotubular myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

X-Linked myotubular myopathy : Report of a case with novel mutation. / Hortobágyi, T.; Szabó, Hajnalka; Kovács, Krisztián S.; Bódi, István; Bereg, Edit; Katona, M.; Biancalana, Valérie; Túri, S.; Sztriha, L.

In: Journal of Child Neurology, Vol. 22, No. 4, 04.2007, p. 447-451.

Research output: Contribution to journalArticle

Hortobágyi, T. ; Szabó, Hajnalka ; Kovács, Krisztián S. ; Bódi, István ; Bereg, Edit ; Katona, M. ; Biancalana, Valérie ; Túri, S. ; Sztriha, L. / X-Linked myotubular myopathy : Report of a case with novel mutation. In: Journal of Child Neurology. 2007 ; Vol. 22, No. 4. pp. 447-451.
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