‘Cap myopathy’: Case report of a family-Reference-Cited by-同舟云学术

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‘Cap myopathy’: Case report of a family

Published:2006-04 Issue:4 Volume:16 Page:277-281
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Cuisset J.M.,Maurage C.A.,Pellissier J.F.,Barois A.,Urtizberea J.A.,Laing N.,Tajsharghi H.,Vallée L.

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Cap disease: new congenital myopathy;Fidzianska;Neurol Ny,1981

2. Nemaline myopathy: a new congenital myopathy;Shy;Brain,1963

3. Nemaline myopathy, an integrative study: selective extraction;Stromer;Exp Neurol,1976

4. Alpha-actinin in nemaline myopathy: immunological confirmation by light and electron microscopy;Wallgren-Pettersson;Neuromuscul Disord,1995

5. Report of the 70th ENMC International Workshop: nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,2000

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1. Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review;Journal of Clinical Neurology;2021

2. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation;Skeletal Muscle;2019-05-27

3. RecessiveMYPNmutations cause cap myopathy with occasional nemaline rods;Annals of Neurology;2017-03

4. Molecular Genetics of Myopathies Caused by β‐Tropomyosin Mutations;eLS;2014-10-15

5. Kyphoscoliosis and easy fatigability in a 14-year-old boy;Neuropathology;2014-08-28

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