Rev Neurol (Paris). 1978 Jun-Jul;134(6-7):411-25.

[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

[Article in French]

Fardeau M, Godet-Guillain J, Tome FM, Collin H, Gaudeau S, Boffety C, Vernant P.

Abstract

This report concerns a family in which several members presented an involvement of skeletal and velo-pharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances and lens opacities. The mode of transmission is autosomal dominant. The E.M.G. showed neither spontaneous activity nor myotonic discharges. In two patients, the muscle biopsies showed identical changes. By light microscopy it was seen that in numerous type I fibres, the intermyofibrillar network was "rubbed out" and this occurred along with splitting of such fibres. Electron microscopy revealed an intrasarcoplasmic accumulation of an electron-dense granulo-filamentous material: in some areas it formed a mesh of threads around the myofibrils and in others it was disposed regularly in small stacks facing the Z lines. Continuity or structural similarity of this material and the Z lines was not observed; its relationship with the dense strips of leptofibrils is suggested.

PMID:: 570292; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene]. [Neurologia. 2001]
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].
Pou Serradell A, Lloreta Trull J, Corominas Torres J, Guicheney P. Neurologia. 2001 May; 16(5):195-203.
Storage of phosphorylated desmin in a familial myopathy. [FEBS Lett. 1988]
Storage of phosphorylated desmin in a familial myopathy.
Rappaport L, Contard F, Samuel JL, Delcayre C, Marotte F, Tomè F, Fardeau M. FEBS Lett. 1988 Apr 25; 231(2):421-5.
Morphology of lesions in striated muscle fibres from the beige mouse. [Exp Pathol. 1982]
Morphology of lesions in striated muscle fibres from the beige mouse.
Kirkeby S. Exp Pathol. 1982; 22(2):113-8.
Review [Central core disease. Two cases with histoenzymology, electron microscopy and review of the literature (author's transl)]. [Ann Pathol. 1981]
Review [Central core disease. Two cases with histoenzymology, electron microscopy and review of the literature (author's transl)].
Pages A, Pages M. Ann Pathol. 1981; 1(1):38-47.
Review Electronmicroscopy in the study of disorders of skeletal muscle. [Pathol Annu. 1974]
Review Electronmicroscopy in the study of disorders of skeletal muscle.
Fisher ER, Danowski TS. Pathol Annu. 1974; 9(0):345-84.

See reviews... See all...

Cited by 9 PubMed Central articles

Review Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. [J Clin Invest. 2009]
Review Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG, Dalakas MC. J Clin Invest. 2009 Jul; 119(7):1806-13. Epub 2009 Jul 1.
Intermediate filament diseases: desminopathy. [Adv Exp Med Biol. 2008]
Intermediate filament diseases: desminopathy.
Goldfarb LG, Olivé M, Vicart P, Goebel HH. Adv Exp Med Biol. 2008; 642:131-64.
Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice. [Physiol Genomics. 2008]
Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice.
Rajasekaran NS, Firpo MA, Milash BA, Weiss RB, Benjamin IJ. Physiol Genomics. 2008 Oct 8; 35(2):165-72. Epub 2008 Jul 15.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumul...
[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].
Rev Neurol (Paris). 1978 Jun-Jul ;134(6-7):411-25.

PubMed
Assortative mating with respect to physical characteristics.
Assortative mating with respect to physical characteristics.
Eugen Q. 1968 Jun ;15(2):128-40.

PubMed
Reaction of antibodies that cause paroxysmal cold hemoglobinuria (PCH) with glob...
Reaction of antibodies that cause paroxysmal cold hemoglobinuria (PCH) with globoside and Forssman glycosphingolipids.
Blood. 1979 Feb ;53(2):186-92.

PubMed
The characterization of amino acid sequences in proteins by statistical methods.
The characterization of amino acid sequences in proteins by statistical methods.
J Theor Biol. 1968 Nov ;21(2):170-201.

PubMed
The small pyramidal neuron of the rat cerebral cortex. The axon hillock and init...
The small pyramidal neuron of the rat cerebral cortex. The axon hillock and initial segment.
J Cell Biol. 1968 Dec ;39(3):604-19.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

Abstract

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 9 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information