Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene-Reference-Cited by-同舟云学术

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Published:2019-02 Issue:2 Volume:29 Page:97-107
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kiiski Kirsi J.,Lehtokari Vilma-Lotta^ORCID,Vihola Anna K.,Laitila Jenni M.,Huovinen Sanna,Sagath Lydia J.,Evilä Anni E.,Paetau Anders E.,Sewry Caroline A.,Hackman Peter B.,Pelin Katarina B.,Wallgren-Pettersson Carina,Udd Bjarne

Publisher

Elsevier BV

Subject

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

Reference46 articles.

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

3. Muscle Biopsy; a practical approach;Dubowitz,2013

4. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review;Piteau;Pediatr Neurol,2014

5. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2;Lehtokari;Neuromuscul Disord,2007

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1. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02

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3. Characterization ofNEBmutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;2023-12-21

4. Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study;Orphanet Journal of Rare Diseases;2023-11-30

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