U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Nemaline myopathy caused by mutation in the tropomyosin 3 gene

MedGen UID:
373089
•Concept ID:
C1836448
•
Disease or Syndrome
Synonym: Nemaline myopathy 1

Recent clinical studies

Diagnosis

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C
Hum Mutat 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. PMID: 16917880

Prognosis

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C
Hum Mutat 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. PMID: 16917880

Clinical prediction guides

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C
Hum Mutat 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. PMID: 16917880
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.
Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, Oliveira AS, Werneck LC, Beggs AH, Zatz M, Vainzof M
J Child Neurol 2003 Mar;18(3):235-40. doi: 10.1177/08830738030180031501. PMID: 12731651
Nebulin expression in patients with nemaline myopathy.
Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M
Neuromuscul Disord 2001 Mar;11(2):154-62. doi: 10.1016/s0960-8966(00)00177-2. PMID: 11257471

Supplemental Content

Table of contents

    Related information

    • MeSH
      Related Medical Subject Headings
    • NCBI Bookshelf
      Related information in NCBI Bookshelf

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...