Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease-Reference-Cited by-同舟云学术

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Published:2021-04 Issue:4 Volume:31 Page:265-280
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Moore Ursula,Gordish Heather,Diaz-Manera Jordi,James Meredith K.,Mayhew Anna G.,Guglieri Michela,Fernandez-Torron Roberto,Rufibach Laura E.,Feng Jia,Blamire Andrew M.,Carlier Pierre G.,Spuler Simone,Day John W.,Jones Kristi J.,Bharucha-Goebel Diana X.,Salort-Campana Emmanuelle,Pestronk Alan,Walter Maggie C.,Paradas Carmen,Stojkovic Tanya,Mori-Yoshimura Madoka,Bravver Elena,Pegoraro Elena,Lowes Linda Pax,Mendell Jerry R.,Bushby Kate,Straub Volker

Funder

Jain Foundation

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p;Bashir;Hum Mol Genet,1994

2. 229th ENMC international workshop: limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017;Straub;Neuromusc Disord,2018

3. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families including an autopsied case;Miyoshi;Brain,1986

5. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

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3. Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy;Skeletal Muscle;2024-08-09

4. Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report;Heliyon;2024-08

5. Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling;Molecular Therapy - Methods & Clinical Development;2024-06