U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hyaline body myopathy

MedGen UID:
922228
•Concept ID:
CN253826
•
Disease or Syndrome
Synonyms: hyaline body myopathy; myosin storage myopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related gene: MYH7
 
Monarch Initiative: MONDO:0018889
Orphanet: ORPHA53698

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Congenital myopathies.
D'Amico A, Bertini E
Curr Neurol Neurosci Rep 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. PMID: 18367042
Electron microscopy in neuromuscular disorders.
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF
Ultrastruct Pathol 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. PMID: 16316944
Surplus protein myopathies.
Goebel HH, Warlo IA
Neuromuscul Disord 2001 Jan;11(1):3-6. doi: 10.1016/s0960-8966(00)00165-6. PMID: 11166159

Diagnosis

Congenital myopathies.
D'Amico A, Bertini E
Curr Neurol Neurosci Rep 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. PMID: 18367042
Electron microscopy in neuromuscular disorders.
Fernandez C, Figarella-Branger D, Meyronet D, Cassote E, Tong S, Pellissier JF
Ultrastruct Pathol 2005 Nov-Dec;29(6):437-50. doi: 10.1080/01913120500323175. PMID: 16316944
Myopathies resulting from mutations in sarcomeric proteins.
Bönnemann CG, Laing NG
Curr Opin Neurol 2004 Oct;17(5):529-37. doi: 10.1097/00019052-200410000-00003. PMID: 15367857
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.
Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ
Neurology 2003 Dec 9;61(11):1519-23. doi: 10.1212/01.wnl.0000096022.09887.9d. PMID: 14663035
Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology.
Masuzugawa S, Kuzuhara S, Narita Y, Naito Y, Taniguchi A, Ibi T
Neurology 1997 Jan;48(1):253-7. doi: 10.1212/wnl.48.1.253. PMID: 9008527

Prognosis

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.
Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ
Neurology 2003 Dec 9;61(11):1519-23. doi: 10.1212/01.wnl.0000096022.09887.9d. PMID: 14663035
Surplus protein myopathies.
Goebel HH, Warlo IA
Neuromuscul Disord 2001 Jan;11(1):3-6. doi: 10.1016/s0960-8966(00)00165-6. PMID: 11166159
Hyaline body myopathy.
Barohn RJ, Brumback RA, Mendell JR
Neuromuscul Disord 1994 May;4(3):257-62. doi: 10.1016/0960-8966(94)90027-2. PMID: 7522681

Clinical prediction guides

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies.
Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP
Radiol Med 2010 Jun;115(4):585-99. Epub 2010 Feb 22 doi: 10.1007/s11547-010-0531-2. PMID: 20177980
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF
Neurology 2004 May 11;62(9):1518-21. doi: 10.1212/01.wnl.0000123255.92062.37. PMID: 15136674

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • 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.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...