Myosin storage (hyaline body) myopathy: A case report-Reference-Cited by-同舟云学术

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Myosin storage (hyaline body) myopathy: A case report

Published:2006-12 Issue:12 Volume:16 Page:882-886
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Shingde Meena V.,Spring Penelope J.,Maxwell Adam,Wills Edward J.,Harper Clive G.,Dye Danielle E.,Laing Nigel G.,North Kathryn N.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference14 articles.

1. Familial myopathy with probable lysis of myofibrils in type I fibers;Cancilla;Neurology,1971

2. Ultrastructural changes in diseased muscle;Engel,1994

3. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7;Tajsharghi;Ann Neurol,2003

4. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases;Laing;Neurology,2005

5. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy;Bohlega;Neurology,2004

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1. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy;BMC Cardiovascular Disorders;2023-10-04

2. Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations;INDIAN J PATHOL MICR;2022

3. Ophthalmological Manifestations of Hereditary Myopathies;Journal of Binocular Vision and Ocular Motility;2022-01-02

4. Congenital Myopathies and Related Disorders;Muscle Biopsy;2021

5. Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase;Disease Models & Mechanisms;2020-01-01

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