SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:DiVA.org:uu-112944"
 

Search: onr:"swepub:oai:DiVA.org:uu-112944" > Adult course in dyn...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • Melberg, AtleUppsala universitet,Neurologi (author)

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

  • Article/chapterEnglish2010

Publisher, publication year, extent ...

  • Elsevier BV,2010
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-112944
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-112944URI
  • https://doi.org/10.1016/j.nmd.2009.10.006DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • We report a family with autosomal dominant centronuclear (myotubular) myopathy caused by a novel mutation, p.A618D, in dynamin 2 (DNM2). The 64-year-old mother and 26-year-old daughter had neonatal onset with hypotonia and weak suckling, followed by improvement, then slowly progressive muscle weakness and respiratory restriction. Muscle biopsy showed radial sarcoplasmic strands around the frequent central nuclei. Electrophysiology revealed predominantly myopathic patterns without peripheral nerve involvement. Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear myopathy. We advise respiratory follow-up in these patients.

Subject headings and genre

  • Amphiphysin
  • Centronuclear myopathy
  • Charcot-Marie-Tooth neuropathy
  • Congenital myopathy
  • DNM2
  • Dynamin 2
  • GTPase
  • Mutation
  • Myotubular myopathy
  • Myotubularin
  • Neonatal
  • Pleckstrin homology
  • RYR1
  • MEDICINE
  • MEDICIN
  • Neurology
  • Neurologi

Added entries (persons, corporate bodies, meetings, titles ...)

  • Kretz, Christine (author)
  • Kalimo, HannuUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)hakal227 (author)
  • Wallgren-Pettersson, Carina (author)
  • Toussaint, Anne (author)
  • Böhm, Johann (author)
  • Stålberg, ErikUppsala universitet,Klinisk neurofysiologi(Swepub:uu)eriksb (author)
  • Laporte, Jocelyn (author)
  • Uppsala universitetNeurologi (creator_code:org_t)

Related titles

  • In:Neuromuscular Disorders: Elsevier BV20:1, s. 53-560960-89661873-2364

Internet link

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view