U.S. flag

An official website of the United States government


Send to:

Choose Destination

Congenital structural myopathy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Congenital Non Progressive Myopathies; Congenital Non-Progressive Myopathies; Congenital Non-Progressive Myopathy; Congenital Structural Myopathies; Congenital Structural Myopathy; Myopathies, Congenital Non-Progressive; Myopathies, Congenital Structural; Myopathies, Myotubular; Myopathies, Structural, Congenital; Myopathy, Congenital Non-Progressive; Myopathy, Congenital Structural; Myopathy, Myotubular; Myotubular Myopathies; Myotubular Myopathy; Non Progressive Myopathies, Congenital; Non-Progressive Myopathies, Congenital; Non-Progressive Myopathy, Congenital; Structural Myopathies, Congenital; Structural Myopathy, Congenital
Monarch Initiative: MONDO:0002921


A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital structural myopathy

Professional guidelines


Gómez-Oca R, Cowling BS, Laporte J
Int J Mol Sci 2021 Oct 21;22(21) doi: 10.3390/ijms222111377. PMID: 34768808Free PMC Article
Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A
Pediatr Neurol 2021 Feb;115:50-65. Epub 2020 Nov 5 doi: 10.1016/j.pediatrneurol.2020.11.002. PMID: 33333461
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844

Recent clinical studies

Clinical prediction guides

Palma S, Keilani M, Hasenoehrl T, Ambrozy C, Dana S, Sycha T, Crevenna R
Wien Med Wochenschr 2018 Oct;168(13-14):367-373. Epub 2017 Jul 25 doi: 10.1007/s10354-017-0580-4. PMID: 28744779

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...